5,487 Matching Annotations
  1. Oct 2026
  2. 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
    6
    1. ClingenBaseline 24 Oct 2026
      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<br> 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
    2. ClingenBaseline 24 Oct 2026
      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
    3. ClingenBaseline 24 Oct 2026
      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<br> 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
    4. ClingenBaseline 24 Oct 2026
      c.1291T>G

      Case#: 41

      DiseaseAssertion: Hemophilia B

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C 2/2% (Moderate Phenotype)

      CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing

      Gene: F9

      Variant: NM_000133.3:c.1291T>G (p.Trp431Gly)

      ClinVar: NA

      CAID: CA414447127

      gnomAD: Not reported

      CAID:CA414447127 Mutation:Missense DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion ParentalTest:Unknown Zygosity:NoZygosityAssertion FIXtesting:Partial HGNC:3551 CaseInfo Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 24 Oct 2026
      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
    6. ClingenBaseline 24 Oct 2026
      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
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    URL

    www-thieme-connect-com.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH16-05-0375.pdf
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Assessment of the F9 genotype-specific FIX inhibitor risks and characterization of 10 novel severe F9 defects in the first molecular series of Argentine patients with haemophilia B
    2
    1. ClingenBaseline 24 Oct 2026
      41.

      Case#: 41

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.1135C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255391

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Nonsense Inhibitor:Absent CAID:CA255391 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 24 Oct 2026
      17.

      Case#: 17

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0011858

      CaseHPOFreeText: FIX:C = 3%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All relevant sequences of F9 were PCR amplified and analyzed by DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.1025C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255381

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Partial Mutation:Missense Inhibitor:Absent CAID:CA255381 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4220540/
  4. onlinelibrary.wiley.com onlinelibrary.wiley.com
    hae14141-sup-0001-tables1.pdf
    20
    1. ClingenBaseline 24 Oct 2026
      136

      Case#: 136, male, 20 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.dup exon14

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large ParentalConfirmation:Maternity SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 24 Oct 2026
      162

      Case#: 162, male, 27 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.3637delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255146

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    3. ClingenBaseline 24 Oct 2026
      30

      Case#: 30, male, 27 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 4.1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.361G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414919926

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919926 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    4. ClingenBaseline 24 Oct 2026
      81

      Case#: 81, male, 19 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 7.1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.5707G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414907751

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414907751 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    5. ClingenBaseline 24 Oct 2026
      128

      Case#: 128, male, 10 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.3637dupA

      LegacyVariant:

      ClinVar: No

      CAID: CA10568191

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift SupplementalData CAID:CA10568191 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 24 Oct 2026
      62

      Case#: 62, male, 50 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 38.5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.2111C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414908864

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense CAID:CA414908864 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    7. ClingenBaseline 24 Oct 2026
      147

      Case#: 147, male, 22 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.1126delG

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    8. ClingenBaseline 24 Oct 2026
      158

      Case#: 158, male, 7 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 14.3%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.3637delA

      LegacyVariant:

      ClinVar: No

      CAID: CA255146

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData CAID:CA255146 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    9. ClingenBaseline 24 Oct 2026
      180

      Case#: 180, male, 13 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.del exon14

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    10. ClingenBaseline 24 Oct 2026
      46

      Case#: 46, male, 21 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 2.3%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.1172G>A

      LegacyVariant:

      ClinVar: 10111

      CAID: CA120918

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA120918 ClinVarID:10111 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    11. ClingenBaseline 24 Oct 2026
      167

      Case#: 167, male, 18 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Noted Family History

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.5046delC

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    12. ClingenBaseline 24 Oct 2026
      53

      Case#: 53, male, 21 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 15.9%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.1834C>T

      LegacyVariant:

      ClinVar: 10236

      CAID: CA255129

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseSeverity:MildHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense DiseaseEntity:FactorVIIIDeficiency CAID:CA255129 ClinVarID:10236 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    13. ClingenBaseline 24 Oct 2026
      70

      Case#: 70, male, 16 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 3%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.5398C>T

      LegacyVariant:

      ClinVar: 10275

      CAID: CA255163

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA255163 ClinVarID:10275 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    14. ClingenBaseline 24 Oct 2026
      31

      Case#: 31, male, 41 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.361G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414919926

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity CAID:CA414919926 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    15. ClingenBaseline 24 Oct 2026
      133

      Case#: 133, male, 59 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.4599_4600dup

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Frameshift ParentalConfirmation:Maternity SupplementalData UnregisteredVariant inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    16. ClingenBaseline 24 Oct 2026
      171

      Case#: 171, male, 7 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.del exons1_14

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Large SupplementalData UnregisteredVariant ToCheck inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    17. ClingenBaseline 24 Oct 2026
      21

      Case#: 21, male, 16 years old, Chinese

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.6403C>T

      LegacyVariant:

      ClinVar: 10088

      CAID: CA255011

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense ParentalConfirmation:Maternity CAID:CA255011 ClinVarID:10088 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    18. ClingenBaseline 24 Oct 2026
      94

      Case#: 94, male, 8 years old, Chinese

      DiseaseAssertion: Hemophilia A, mild

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 8.5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.6448G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414907951

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaB Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ParentalConfirmation:Maternity SupplementalData CAID:CA414907951 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    19. ClingenBaseline 24 Oct 2026
      3

      Case#: 3, male, 39 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: Noted Family History

      ParentalTesting: Maternity confirmed

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 2%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.616G>T

      LegacyVariant:

      ClinVar: No

      CAID: CA414919319

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Mutation:Nonsense Zygosity:Hemizygous FIXtesting:Partial ParentalConfirmation:Maternity CAID:CA414919319 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    20. ClingenBaseline 24 Oct 2026
      27

      Case#: 27, male, 30 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.266G>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414920127

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Missense ToCheck CAID:CA414920127 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    onlinelibrary.wiley.com/action/downloadSupplement
  5. www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
    Untitled document
    15
    1. ClingenBaseline 24 Oct 2026
      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
    2. ClingenBaseline 24 Oct 2026
      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
    3. ClingenBaseline 24 Oct 2026
      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
    4. ClingenBaseline 24 Oct 2026
      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
    5. ClingenBaseline 24 Oct 2026
      002–1002

      Case#: 002-1002

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

      Gene: F8

      Variant:

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    6. ClingenBaseline 24 Oct 2026
      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
    7. ClingenBaseline 24 Oct 2026
      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
    8. ClingenBaseline 24 Oct 2026
      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
    9. ClingenBaseline 24 Oct 2026
      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
    10. ClingenBaseline 24 Oct 2026
      010–1002

      Case#: 010-1002

      DiseaseAssertion: Hemophilia A, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

      Gene: F8

      Variant:

      LegacyVariant:

      ClinVar: No

      CAID: No

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseEntity:FactorVIIIDeficiency DiseaseSeverity:SevereHemophiliaA Inhibitor:Present AssayDiscrepancy:NotReported Mutation:Large FIXtesting:Partial SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    11. ClingenBaseline 24 Oct 2026
      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
    12. ClingenBaseline 24 Oct 2026
      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
    13. ClingenBaseline 24 Oct 2026
      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
    14. ClingenBaseline 24 Oct 2026
      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
    15. ClingenBaseline 24 Oct 2026
      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
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    www-thieme-connect-de.libproxy.lib.unc.edu/media/10.1055-s-00035024/202105/supmat/10-1055-s-0040-1721385-s200426.pdf
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ssODN-Mediated In-Frame Deletion with CRISPR/Cas9 Restores FVIII Function in Hemophilia A-Patient-Derived iPSCs and ECs
    1
    1. ClingenBaseline 24 Oct 2026
      21-year-old male patient

      Case1: 21 year old, male patient, bearing a F8 frameshift mutation with severe Hemophilia A.

      DiseaseAssertion: Severe Hemophilia A

      Variant: NM_000132.3:c.3167del

      ClinVar: Not noted in ClinVar

      CAID: CA915940211 (Previously not registered)

      DiseaseEntity: Factor VIII deficiency

      Inheritance Pattern: No inheritance assertion

      CaseIndividual CAiD:CA915940211 DiseaseEntity:FactorVIIIDeficiency InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:3546 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6610636/
  7. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    The human factor IX gene as germline mutagen test: Samples from mainland China have the putatively endogenous pattern of mutation
    2
    1. ClingenBaseline 24 Oct 2026

      Case#: Liu_Proband_56/439/440/486/830 (assumed male; Chinese)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      ClinVar: Absent

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435539 FIXTesting:None ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 24 Oct 2026

      Case#: Liu_Proband_438 (assumed male; Chinese)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.127C>T (p.Arg43Trp)

      ClinVar: Absent

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414435537 FIXTesting:None ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1002/1098-1004(200007)16:1<31::AID-HUMU6>3.0.CO
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A genetic analysis of 23 Chinese patients with hemophilia B
    2
    1. ClingenBaseline 24 Oct 2026
      16

      Case#: 16

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C = 1.5%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.427C>G

      LegacyVariant:

      ClinVar: No

      CAID: CA414438921

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA414438921 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 24 Oct 2026
      11

      Case#: 11

      DiseaseAssertion: Hemophilia B, severe

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FIX:C < 1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: All exons, UTRs, exon-intron junction regions, and the promotor of F9 were amplified by PCR and analyzed by direct DNA sequencing

      Gene: F9

      Variant: NM_000133.3:c.676C>T

      LegacyVariant:

      ClinVar: No

      CAID: CA255350

      gnomAD:

      CaseInfo DiseaseEntity:FactorIXDeficiency DiseaseSeverity:SevereHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Zygosity:NoZygosityAssertion FIXtesting:Full ParentalTest:Unknown Mutation:Missense CAID:CA255350 inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC4842959/
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity
    1
    1. ClingenBaseline 24 Oct 2026
      The final list of mutations is provided in Supplementary Table S1.

      Case#: N/A

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: N/A

      CaseHPOsFreeText: N/A

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.59T>C (p.Leu20Ser)

      ClinVar: Absent

      CAID: CA414434363

      gnomAD: Absent/NotReported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434363 DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC6606640/
  10. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients
    1
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    pubmed.ncbi.nlm.nih.gov/15086324/
  11. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians
    1
    1. ClingenBaseline 24 Oct 2026
      mutations in the factor IX gene resulting in hemophilia B.

      Case#: Gostout_Proband_280 (assumed male, Asian (from Japan))

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: None

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (FIX:C: 1.8%)

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene: F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency CAID:CA414435539 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    pubmed.ncbi.nlm.nih.gov/8499919/
  12. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations
    4
    1. ClingenBaseline 24 Oct 2026
      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
    2. ClingenBaseline 24 Oct 2026
      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
    3. ClingenBaseline 24 Oct 2026
      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
    4. ClingenBaseline 24 Oct 2026
      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
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7752620/
  13. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    High resolution melting for F9 gene mutation analysis in patients with haemophilia B
    2
    1. ClingenBaseline 24 Oct 2026
      c.83G>A

      Case#: Salviato_Proband_2164 (male, Chinese)

      DiseaseAssertion: Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.83G>A (p.Cys28Tyr)

      ClinVar: Absent

      CAID: CA414434483

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA414434483 FIXTesting:None inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC6343595/
  14. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa
    1
    1. ClingenBaseline 24 Oct 2026
      mutant factor IX

      Case#: Salle_Proband_J-C L (male, 23 y/o, white)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: family history is negative for any haemostatic disorder

      ParentalTesting: family history is negative for any haemostatic disorder

      CasePresentingHPOs: HP:0011858, HP:0012233, HP:0000421

      CaseHPOsFreeText: reduced factor IX activity (FIX:C: <0.01 % FIX:Ag: 0.46), muscular haematoma, haemarthrosis, nose bleeding

      CaseNotHPOs: N/A

      CasePreviousTesting: None

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Zygosity:NoZygosityAssertion CAID:CA414435539 Mutation:Missense FIXTesting:Full DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    pubmed.ncbi.nlm.nih.gov/8295821/
  15. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Twenty-Four Novel Hemophilia B Mutations Revealed by Rapid Scanning of the Whole Factor IX Gene in a French Population Sample
    1
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    pubmed.ncbi.nlm.nih.gov/8055323/
  16. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Monitoring once-weekly recombinant factor IX prophylaxis in hemophilia B with thrombin generation assay and factor IX activity
    1
    1. ClingenBaseline 24 Oct 2026
      c.83G>A/p.Cys28Tyr

      Case#: Nummi_Proband_6 (assumed male)

      DiseaseAssertion: Moderate Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: None

      CasePresentingHPOs: HP:0001929 (FIX baseline clotting activity: 1

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.83G>A (p.Cys28Tyr)

      ClinVar: Absent

      CAID: CA414434483

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434483 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Moderate inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/ijlh.12634
  17. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Missense mutations at ALA-10 in the factor IX propeptide: an insignificant variant in normal life but a decisive cause of bleeding during oral anticoagulant therapy
    1
    1. ClingenBaseline 24 Oct 2026

      Case#: Oldenburg Cases A, B and C (A: 66 y/o, B: 38 y/o, C: 30 y/o (all in Germany))

      DiseaseAssertion: Mild Hemophilia B

      FamilyInfo: No bleeding tendency noted in any of these patients family history

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: severe bleeding at each occasion of oral anticoagulation with phenoprocoumon, bleeding was located in the muscles of the upper leg (patients A and C) and scrotum, left calf and thigh musles (patient B), reduced factor IX levels

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.109G>A (p.Ala37Thr)

      LegacyVariant: p.Ala-10Thr

      ClinVar: 804089

      CAID: CA10529736

      gnomAD: Allele Frequency in population where variant was found in the highest (South Asian population): 0.0001128

      AdditionalCaseInfo: all patients were unrelated up to the third generation. However, the parents of patients A and C emigrated from the same region in North-Eastern Europe (North Poland)

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA10529736 FIXTesting:Partial ParentalTest:Unknown DiseaseSeverity:Mild inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1046/j.1365-2141.1997.2213036.x
  18. link.springer.com link.springer.com
    Therapeutic potential of spheroids of stem cells from human exfoliated deciduous teeth for chronic liver fibrosis and hemophilia A
    1
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    link.springer.com/content/pdf/10.1007/s00383-019-04564-4.pdf
  19. 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
    2
    1. ClingenBaseline 24 Oct 2026
      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
    2. ClingenBaseline 24 Oct 2026
      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
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    oce-ovid-com.libproxy.lib.unc.edu/article/00001721-200804000-00003/HTML
  20. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification and Genetic Analysis of a Factor IX Gene Intron 3 Mutation in a Hemophilia B Pedigree in China
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC4287022/
  21. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Usefulness of an in vitro cellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in the F8 gene in women with isolated factor VIII:C deficiency
    1
    1. ClingenBaseline 24 Oct 2026
      p.Ala315dup (patient P2)

      CaseInfo: P2 (female)

      DiseaseAssertion: Carrier

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0003125, HP:0004846, HP:0001892

      CaseHPOFreeText: Low FVIII levels (undetectable FVIII:C levels and significant decrease in FVIII:Ag levels: 1.7% ± 1.1), prolonged bleeding after surgery, mild bleeding tendency

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      CasePreviousTesting: Molecular Analysis included a southern blot assay, PCR, dHPLC and a multiplex ligation-dependent probe amplification analysis. Plasmid mutagenesis, plasmid transfection were also performed.

      Gene: F8

      Variant: NM_000132.3:c.943del

      CAID: CAID:CA255085

      gnomAD: Absent/Not Reported

      Gene:F8 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorVIIIDeficiency Mutation:Missense CAID:CA255085 ParentalTest:Unknown Zygosity:Heterozygous inferred_gene_hgnc:3546 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.12651
  22. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5727804/
  23. illiad.lib.unc.edu illiad.lib.unc.edu
    Secretion of wild&#x02010;type factor IX upon readthrough over <i>F9</i> pre&#x02010;peptide nonsense mutations causing hemophilia B
    1
    1. ClingenBaseline 24 Oct 2026
      p.Cys28Trp

      Case#: N/A

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: None

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0001929

      CasePresentingHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: None

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.84T>G (p.Cys28Trp)

      ClinVar: Absent

      CAID: CA414434487

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414434487 ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    illiad.lib.unc.edu/NOH/illiad.dll
  24. 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
    1
    1. ClingenBaseline 24 Oct 2026
      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
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    ncbi.nlm.nih.gov/pmc/articles/PMC5330775/
  25. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Consequences of factor IX mutations in 26 families with haemophilia B
    1
    1. ClingenBaseline 24 Oct 2026
      Mutations

      Case#: Weinmann_Family 9248

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: 16 of the families were from the Pacific Northwest, 4 from Colorado, and 6 were referred from elsewhere in the United States

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (FIX:C: <1%, FIX:Ag: 37)

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.127C>T (p.Arg43Trp)

      LegacyVariant: c.6364C>T

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435537 FIXTesting:Full ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.1998.00512.x
  26. haematologica.org haematologica.org
    Molecular genotyping of the Italian cohort of patients with hemophilia B
    1
    1. ClingenBaseline 24 Oct 2026
      identify the causative mutation

      Case#: Belvini_Proband_15 (male, Italian)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.128G>A (p.Arg43Gln)

      ClinVar: 810864

      CAID: CA414435539

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435539 FIXTesting:None ParentalTest:Unknown DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    haematologica.org/article/view/3523
  27. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Phase 1, single‐dose escalating study of marzeptacog alfa (activated), a recombinant factor VIIa variant, in patients with severe hemophilia
    1
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    onlinelibrary.wiley.com/doi/full/10.1111/jth.14247
  28. illiad.lib.unc.edu illiad.lib.unc.edu
    untitled
    1
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    illiad.lib.unc.edu/NOH/illiad.dll
  29. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Identification of twenty‐one new mutations in the factor IX gene by SSCP analysis
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1002/(SICI)1098-1004(1999)13:2<160::AID-HUMU9>3.0.CO
  30. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites
    2
    1. ClingenBaseline 24 Oct 2026
      c.5286T>A

      Case#: 25

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Moderate

      CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit

      Gene: F8

      Variant: NM_000132.3:c.5286T>A (p.Phe1743Leu)

      ClinVar: NA

      CAID: CA414910973

      gnomAD: Not reported

      CAID:CA414910973 Zygosity:NoZygosityAssertion ParentalTest:Unknown DiseaseEntity:FactorVIIIDeficiency HGNC:3546 CaseInfo Mutation:Missense Gene:F8 InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    2. ClingenBaseline 24 Oct 2026
      c.2766delC

      Case#: 3

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Positive

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: Moderate

      CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit

      Gene: F8

      Variant: NM_000132.3:c.2766del (p.Leu923Ter)

      ClinVar: NA

      CAID: CA923726358

      gnomAD: Not reported

      DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion ParentalTest:Unknown CAID:CA923726358 InheritancePattern:Xlinked CaseInfo HGNC:3546 Gene:F8 Mutation:Frameshift inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC2275016/
  31. oce-ovid-com.libproxy.lib.unc.edu oce-ovid-com.libproxy.lib.unc.edu
    A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability
    1
    1. ClingenBaseline 24 Oct 2026
      Fig. 1

      Case#: 12 year old male

      DiseaseAssertion: Hemophilia B, moderate

      FamilyInfo: Mother was a carrier. Maternal uncle has the same hemizygous mutation

      ParentalTesting: Family Pedigree reveals that the mother was a carrier of the variant identified in the proband

      CasePresentingHPOs: HP:0011858, HP:0030839

      CaseHPOFreeText: FIX:C = 1%, proband had a history of soft tissue hemorrhages since 7 years of age

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: Direct nucleotide sequencing was completed

      Gene: F9

      Variant: NM_000133.3:c.157G>C

      LegacyVariant:

      ClinVar: No

      CAID: CA414435729

      gnomAD:

      DiseaseEntity:FactorIXDeficiency DiseaseSeverity:ModerateHemophiliaB Inhibitor:NotReported AssayDiscrepancy:NotReported Mutation:Missense Zygosity:Hemizygous PreviousTesting:Additional FIXtesting:Partial ParentalTest:Both FamilyInfo Gene:F9 HGNC:3551 CAID:CA414435729 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    oce-ovid-com.libproxy.lib.unc.edu/article/00001721-202003000-00002/HTML
  32. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ajhg00072-0168.pdf
    1
    1. ClingenBaseline 24 Oct 2026
      37, G-IA

      Case#: Riegelsberg (male)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: Mother carries only the G-to-A transition (age at conception: 30 y/o). Origin of variant cannot be proved, since maternal grandparents were deceased at time of report.

      ParentalTesting: Mother carries only the G-to-A transition, father shows to not be affected (figure 1)

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: FIX Coagulant %: < 1, FIX Antigen %: < 1

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.8G>A (p.Arg3His)

      LegacyVariant: c.37G>A

      ClinVar: 695909

      CAID: CA10529706

      gnomAD: Filtering AF: 0.0002304 (no homozygotes)

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense CAID:CA10529706 DiseaseSeverity:Severe ParentalTest:Both FIXTesting:Full inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC1682539/pdf/ajhg00072-0168.pdf
  33. Local file Local file
    OA 5_A short term_Kiran Shakya.indd
    1

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  34. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular pathology of haemophilia B
    1
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    pubmed.ncbi.nlm.nih.gov/2743975/
  35. www-tandfonline-com.libproxy.lib.unc.edu www-tandfonline-com.libproxy.lib.unc.edu
    New technologies in gene therapy for inducing immune tolerance in hemophilia A
    1
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    www-tandfonline-com.libproxy.lib.unc.edu/doi/full/10.1080/1744666X.2018.1539667
  36. www.nature.com www.nature.com
    Night blindness in Sorsby's fundus dystrophy reversed by vitamin A
    1
    1. ClingenBaseline 24 Oct 2026
      Night blindness in Sorsby's fundus dystrophy reversed by vitamin A

      PMID: 7550309

      Gene: TIMP3

      HGNC: 11822

      Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy

      MONDO: 0007640

      InheritancePattern: Autosomal Dominant

      Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)

      Penetrance: Fully penetrant, onset between the third and sixth decades of life

      ClinGen General Gene:TIMP3 HGNC:11822 inferred_gene_hgnc:11822 inferred_gene_source:hgnc_tag Retina GCEP
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    nature.com/articles/ng0995-27
  37. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Isolation and characterization of cGMP phosphodiesterase from bovine rod outer segments
    1
    1. ClingenBaseline 24 Oct 2026
      Isolation and characterization of cGMP phosphodiesterase from bovine rod outer segments

      PMID: 227876

      Gene: PDE6A

      HGNC: 8785

      Disease: retinitis pigmentosa 43

      MONDO: MONDO:0013437

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a recessive mode of inheritance is estimated to be 65-85% (between 1 in 3,500 and 1 in 6,200). Retinitis pigmentosa 43 is considered to be make up 2-5% of these cases, with an overall prevalence estimated between 1 in 70,000 and 1 in 310,000.

      Penetrance: Known disease-causing alleles appear to be completely penetrant.

      General ClinGen Gene:PDE6A HGNC:8785 inferred_gene_hgnc:8785 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/227876/
  38. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype
    1
    1. ClingenBaseline 24 Oct 2026
      A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype

      PMID: 9448321

      Gene: GUCY2D

      HGNC: 4689

      Disease: Leber congenital amaurosis 1

      MONDO: 0008764

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by GUCY2D variants is between 10% and 20% (PMID: 10951519). Thus, the prevalence of Leber congenital amaurosis 1 is between 1 in 165,000 and 1 in 1,000,000.

      Penetrance: Fully penetrant, with onset in neonates or in infancy

      General ClinGen Gene:GUCY2D HGNC:4689 inferred_gene_hgnc:4689 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC18742/
  39. journals.physiology.org journals.physiology.org
    Nyctalopin Expression in Retinal Bipolar Cells Restores Visual Function in a Mouse Model of Complete X-Linked Congenital Stationary Night Blindness | Journal of Neurophysiology
    1
    1. ClingenBaseline 24 Oct 2026
      Nyctalopin Expression in Retinal Bipolar Cells Restores Visual Function in a Mouse Model of Complete X-Linked Congenital Stationary Night Blindness

      PMID: 17881478

      Gene: NYX

      HGNC: 8082

      Disease: Congenital stationary night blindness 1A

      MONDO: 0010690

      InheritancePattern: X-linked recessive

      Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1A specifically is unknown.

      Penetrance: Penetrance is thought to be complete.

      General ClinGen Gene:NYX HGNC:8082 inferred_gene_hgnc:8082 inferred_gene_source:hgnc_tag Retina GCEP
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    journals.physiology.org/doi/full/10.1152/jn.00608.2007
  40. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain
    1
    1. ClingenBaseline 24 Oct 2026
      The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain

      PMID: 15207259

      Gene: CLN5

      HGNC: 2076

      Disease: Ceroid lipofuscinosis, neuronal, 5 (also known as Finnish variant late infantile neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis late infantile Finnish variant, or Finnish vLINCL)

      MONDO: 0009745

      InheritancePattern: Autosomal Recessive

      Prevalence: Unknown, but part of a larger group of NCL disorders with a collective prevalence between 1 in 12,500 (PMID:9662406) and 1 in 100,000 (PMID:23374165)

      Penetrance: Fully penetrant, with onset often in the late infantile period but in some cases during early adulthood or even as late as in the 6th decade of life

      General ClinGen Gene:CLN5 HGNC:2076 inferred_gene_hgnc:2076 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/15207259/
  41. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP
    1
    1. ClingenBaseline 24 Oct 2026
      Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP

      PMID: 30622176

      Gene: RPGR

      HGNC: 10295

      Disease: RPGR-related retinopathy

      MONDO: MONDO:0100437

      InheritancePattern: X-linked

      Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).

      Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.

      General ClinGen Gene:RPGR HGNC:10295 inferred_gene_hgnc:10295 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC6347721/
  42. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease
    1
    1. ClingenBaseline 24 Oct 2026
      Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

      PMID: 38184646

      Gene: PRPF4

      HGNC: 17349

      Disease: retinitis pigmentosa 70

      MONDO: 0014400

      InheritancePattern: autosomal dominant

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,500 and 1 in 27,000). The proportion of that incidence made up by the specific form caused by variants in PRPF4 is not clear.

      Penetrance: Known disease-causing alleles appear to be incompletely penetrant (PMID: 25383878).

      General ClinGen Gene:PRPF4 HGNC:17349 inferred_gene_hgnc:17349 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/38184646/
  43. www.sciencedirect.com www.sciencedirect.com
    The retinal pigment epithelium in Sorsby Fundus Dystrophy shows increased sensitivity to oxidative stress-induced degeneration
    1
    1. ClingenBaseline 24 Oct 2026
      The retinal pigment epithelium in Sorsby Fundus Dystrophy shows increased sensitivity to oxidative stress-induced degeneration

      PMID: 32828705

      Gene: TIMP3

      HGNC: 11822

      Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy

      MONDO: 0007640

      InheritancePattern: Autosomal Dominant

      Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)

      Penetrance: Fully penetrant, onset between the third and sixth decades of life

      General ClinGen Gene:TIMP3 HGNC:11822 inferred_gene_hgnc:11822 inferred_gene_source:hgnc_tag Retina GCEP
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    sciencedirect.com/science/article/pii/S2213231720308867
  44. www.nature.com www.nature.com
    Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
    1
    1. ClingenBaseline 24 Oct 2026
      Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

      PMID: 7647783

      Gene: GPR143

      HGNC: 20145

      Disease: X-linked recessive ocular albinism

      MONDO: 0021019

      InheritancePattern: X-linked recessive

      Prevalence: Ocular albinism has an estimated prevalence between 1 in 111,000 and 1 in 1,000,000 live births (PMID: 35495622)

      Penetrance: Fully penetrant in males, with onset in infancy. Most female carriers appear to be unaffected.

      General ClinGen Gene:GPR143 HGNC:20145 inferred_gene_hgnc:20145 inferred_gene_source:hgnc_tag Retina GCEP
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    nature.com/articles/ng0595-13
  45. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy
    1
    1. ClingenBaseline 24 Oct 2026
      RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy

      PMID: 23281133

      Gene: RP1L1

      HGNC: 15946

      Disease: occult macular dystrophy

      MONDO: 0013316

      InheritancePattern: autosomal dominant

      Prevalence: The prevalence of occult macular dystrophy is "significantly less than one in 10,000 or 100,000 (https://www.reviewofoptometry.com/article/the-best-is-yet-to-come-feb).

      Penetrance: The disease is known to be incompletely penetrant in family members carrying the heterozygous p.Arg45Trp variant (PMID: 20826268).

      General ClinGen Gene:RP1L1 HGNC:15946 inferred_gene_hgnc:15946 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/23281133/
  46. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Next-Generation Sequencing–Based Molecular Diagnosis of a Chinese Patient Cohort With Autosomal Recessive Retinitis Pigmentosa
    1
    1. ClingenBaseline 24 Oct 2026
      Next-Generation Sequencing–Based Molecular Diagnosis of a Chinese Patient Cohort With Autosomal Recessive Retinitis Pigmentosa

      PMID: 23661369

      Gene: ADAM9

      HGNC: 216

      Disease: cone-rod dystrophy 9

      MONDO: MONDO:0013002

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of cone-rod dystrophy in general is estimated to be 1 in 40,000 (PMID: 17270046), however, the specific prevalence of cone-rod dystrophy 9 is unknown.

      Penetrance: Penetrance appears to be complete in reported families, but it is possible that incomplete penetrance may be associated with some variants.

      General ClinGen Gene:ADAM9 HGNC:216 inferred_gene_hgnc:216 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC3684217/
  47. iovs.arvojournals.org iovs.arvojournals.org
    The Benign Concentric Annular Macular Dystrophy Locus Maps to 6p12.3-q16
    1
    1. ClingenBaseline 24 Oct 2026
      The Benign Concentric Annular Macular Dystrophy Locus Maps to 6p12.3-q16

      PMID: 14691150

      Gene: IMPG1

      HGNC: 6055

      Disease: vitelliform macular dystrophy 4

      MONDO: 0014508

      InheritancePattern: semi-dominant

      Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.

      General ClinGen Gene:IMPG1 HGNC:6055 inferred_gene_hgnc:6055 inferred_gene_source:hgnc_tag Retina GCEP
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    iovs.arvojournals.org/article.aspx
  48. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Eyes shut homolog (EYS) interacts with matriglycan of O-mannosyl glycans whose deficiency results in EYS mislocalization and degeneration of photoreceptors
    1
    1. ClingenBaseline 24 Oct 2026
      Eyes shut homolog (EYS) interacts with matriglycan of O-mannosyl glycans whose deficiency results in EYS mislocalization and degeneration of photoreceptors

      PMID: 32385361

      Gene: EYS

      HGNC: 21555

      Disease: Retinitis pigmentosa 25

      MONDO: MONDO:0011272

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa caused by homozygous or compound heterozygous EYS variants is estimated to be 12% in the French population (PMID: 20333770), implying in an overall prevalence between 1 in 25,000 and 1 in 33,000.

      Penetrance: The disease appears to be completely penetrant among published families.

      General ClinGen Gene:EYS HGNC:21555 inferred_gene_hgnc:21555 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC7210881/
  49. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse
    1
    1. ClingenBaseline 24 Oct 2026
      Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse

      PMID: 1992463

      Gene: PRPH2

      HGNC: 9942

      Disease: retinitis pigmentosa 7

      MONDO: 0011974

      InheritancePattern: semi-dominant

      Prevalence: The incidence of PRPH2-related cases among inherited retinal dystrophies is reported to range from 3.5% in North America to 10.3% in France (PMID: 36010202).

      Penetrance: The penetrance among biallelic cases appears to be complete, while the monoallelic cases exhibit incomplete penetrance (PMID: 36609934).

      General ClinGen Gene:PRPH2 HGNC:9942 inferred_gene_hgnc:9942 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/1992463/
  50. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa
    1
    1. ClingenBaseline 24 Oct 2026
      Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa

      PMID: 21051334

      Gene: PRPF4

      HGNC: 17349

      Disease: retinitis pigmentosa 70

      MONDO: 0014400

      InheritancePattern: autosomal dominant

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,500 and 1 in 27,000). The proportion of that incidence made up by the specific form caused by variants in PRPF4 is not clear.

      Penetrance: Known disease-causing alleles appear to be incompletely penetrant (PMID: 25383878).

      General ClinGen Gene:PRPF4 HGNC:17349 inferred_gene_hgnc:17349 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/21051334/
  51. www.jbc.org www.jbc.org
    Interactions within the Coiled-coil Domain of RetGC-1 Guanylyl Cyclase Are Optimized for Regulation Rather than for High Affinity *
    1
    1. ClingenBaseline 24 Oct 2026
      Interactions within the Coiled-coil Domain of RetGC-1 Guanylyl Cyclase Are Optimized for Regulation Rather than for High Affinity

      PMID: 11306565

      Gene: GUCY2D

      HGNC: 4689

      Disease: Cone-rod dystrophy 6

      MONDO: 0011143

      InheritancePattern: Autosomal Dominant

      Prevalence: The overall prevalence of cone-rod dystrophy is between 1 in 30,000 and 1 in 40,000 (PMID: 17270046), while the proportion of cone-rod dystrophy caused by GUCY2D variants is between 19% and 23% (PMID: 22183351, PMID: 25515582). Thus, the prevalence of cone-rod dystrophy 6 is between 1 in 130,000 and 1 in 215,000.

      Penetrance: Penetrance is age-dependent, with onset between the 1st and 6th decades of life.

      General ClinGen Gene:GUCY2D HGNC:4689 inferred_gene_hgnc:4689 inferred_gene_source:hgnc_tag Retina GCEP
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    jbc.org/article/S0021-9258(19)30179-6/fulltext
  52. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    SPACR Encoded by IMPG1 Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment Epithelium
    1
    1. ClingenBaseline 24 Oct 2026
      SPACR Encoded by IMPG1 Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment Epithelium

      PMID: 36140676

      Gene: IMPG1

      HGNC: 6055

      Disease: vitelliform macular dystrophy 4

      MONDO: 0014508

      InheritancePattern: semi-dominant

      Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.

      General ClinGen Gene:IMPG1 HGNC:6055 inferred_gene_hgnc:6055 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/36140676/
  53. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation
    1
    1. ClingenBaseline 24 Oct 2026
      Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation

      PMID: 26061163

      Gene: PRPH2

      HGNC: 9942

      Disease: retinitis pigmentosa 7

      MONDO: 0011974

      InheritancePattern: semi-dominant

      Prevalence: The incidence of PRPH2-related cases among inherited retinal dystrophies is reported to range from 3.5% in North America to 10.3% in France (PMID: 36010202).

      Penetrance: The penetrance among biallelic cases appears to be complete, while the monoallelic cases exhibit incomplete penetrance (PMID: 36609934).

      General ClinGen Gene:PRPH2 HGNC:9942 inferred_gene_hgnc:9942 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/26061163/
  54. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches
    1
    1. ClingenBaseline 24 Oct 2026
      CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches

      PMID: 23160995

      Gene: CLN5

      HGNC: 2076

      Disease: Ceroid lipofuscinosis, neuronal, 5 (also known as Finnish variant late infantile neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis late infantile Finnish variant, or Finnish vLINCL)

      MONDO: 0009745

      InheritancePattern: Autosomal Recessive

      Prevalence: Unknown, but part of a larger group of NCL disorders with a collective prevalence between 1 in 12,500 (PMID:9662406) and 1 in 100,000 (PMID:23374165)

      Penetrance: Fully penetrant, with onset often in the late infantile period but in some cases during early adulthood or even as late as in the 6th decade of life

      General ClinGen Gene:CLN5 HGNC:2076 inferred_gene_hgnc:2076 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/23160995/
  55. www.pnas.org www.pnas.org
    RPE65 is the isomerohydrolase in the retinoid visual cycle
    1
    1. ClingenBaseline 24 Oct 2026
      RPE65 is the isomerohydrolase in the retinoid visual cycle

      PMID: 16116091

      Gene: RPE65

      HGNC: 10294

      Disease: Leber congenital amaurosis 2

      MONDO: 0008765

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by RPE65 variants is between 1% and 16.7%. Thus, the prevalence of Leber congenital amaurosis 2 is between 1 in 200,000 and 1 in 10,000,000.

      Penetrance: Fully penetrant, with onset typically by 1 year of age

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
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    pnas.org/content/102/35/12413
  56. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65
    1
    1. ClingenBaseline 24 Oct 2026
      Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65

      PMID: 16828753

      Gene: RPE65

      HGNC: 10294

      Disease: Retinitis pigmentosa 20

      MONDO: 0013425

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of recessive Retinitis pigmentosa caused by RPE65 variants is ~2%. (PMID: 9501220) Thus, the prevalence of Retinitis pigmentosa 20 is between 1 in 150,000 and 1 in 200,000.

      Penetrance: Fully penetrant, with onset typically in childhood

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/16828753/
  57. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism
    1
    1. ClingenBaseline 24 Oct 2026
      Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

      PMID: 8634705

      Gene: GPR143

      HGNC: 20145

      Disease: X-linked recessive ocular albinism

      MONDO: 0021019

      InheritancePattern: X-linked recessive

      Prevalence: Ocular albinism has an estimated prevalence between 1 in 111,000 and 1 in 1,000,000 live births (PMID: 35495622)

      Penetrance: Fully penetrant in males, with onset in infancy. Most female carriers appear to be unaffected.

      General ClinGen Gene:GPR143 HGNC:20145 inferred_gene_hgnc:20145 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/8634705/
  58. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
    1
    1. ClingenBaseline 24 Oct 2026
      Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

      PMID: 9326941

      Gene: RPE65

      HGNC: 10294

      Disease: Retinitis pigmentosa 20

      MONDO: 0013425

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of recessive Retinitis pigmentosa caused by RPE65 variants is ~2%. (PMID: 9501220) Thus, the prevalence of Retinitis pigmentosa 20 is between 1 in 150,000 and 1 in 200,000.

      Penetrance: Fully penetrant, with onset typically in childhood

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/9326941/
  59. academic.oup.com academic.oup.com
    A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features
    1
    1. ClingenBaseline 24 Oct 2026
      A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features

      PMID: 8634721

      Gene: TIMP3

      HGNC: 11822

      Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy

      MONDO: 0007640

      InheritancePattern: Autosomal Dominant

      Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)

      Penetrance: Fully penetrant, onset between the third and sixth decades of life

      General ClinGen Gene:TIMP3 HGNC:11822 inferred_gene_hgnc:11822 inferred_gene_source:hgnc_tag Retina GCEP
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    academic.oup.com/hmg/article/4/12/2415/634651
  60. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance
    1
    1. ClingenBaseline 24 Oct 2026
      Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance

      PMID: 12552567

      Gene: GUCY2D

      HGNC: 4689

      Disease: Cone-rod dystrophy 6

      MONDO: 0011143

      InheritancePattern: Autosomal Dominant

      Prevalence: The overall prevalence of cone-rod dystrophy is between 1 in 30,000 and 1 in 40,000 (PMID: 17270046), while the proportion of cone-rod dystrophy caused by GUCY2D variants is between 19% and 23% (PMID: 22183351, PMID: 25515582). Thus, the prevalence of cone-rod dystrophy 6 is between 1 in 130,000 and 1 in 215,000.

      Penetrance: Penetrance is age-dependent, with onset between the 1st and 6th decades of life.

      General ClinGen Gene:GUCY2D HGNC:4689 inferred_gene_hgnc:4689 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/12552567/
  61. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    The rhodopsin cycle is preserved in IRBP "knockout" mice despite abnormalities in retinal structure and function
    1
    1. ClingenBaseline 24 Oct 2026
      The rhodopsin cycle is preserved in IRBP "knockout" mice despite abnormalities in retinal structure and function

      PMID: 10750831

      Gene: RBP3

      HGNC: 9921

      Disease: retinitis pigmentosa 66

      MONDO: 0014093

      InheritancePattern: autosomal recessive

      Prevalence: RBP3-related cases are believed to be very rare (possibly with estimated prevalence of less than 1 in 1,000,000), however, it is believed that there may be under-diagnosis (PMID: 37806543).

      Penetrance: RBP3 disease-causing variants appear to have complete penetrance.

      General ClinGen Gene:RBP3 HGNC:9921 inferred_gene_hgnc:9921 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/10750831/
  62. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    MDC-9 (ADAM-9/Meltrin gamma) functions as an adhesion molecule by binding the alpha(v)beta(5) integrin
    1
    1. ClingenBaseline 24 Oct 2026
      MDC-9 (ADAM-9/Meltrin gamma) functions as an adhesion molecule by binding the alpha(v)beta(5) integrin

      PMID: 11162558

      Gene: ADAM9

      HGNC: 216

      Disease: cone-rod dystrophy 9

      MONDO: MONDO:0013002

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of cone-rod dystrophy in general is estimated to be 1 in 40,000 (PMID: 17270046), however, the specific prevalence of cone-rod dystrophy 9 is unknown.

      Penetrance: Penetrance appears to be complete in reported families, but it is possible that incomplete penetrance may be associated with some variants.

      General ClinGen Gene:ADAM9 HGNC:216 inferred_gene_hgnc:216 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/11162558/
  63. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children
    1
    1. ClingenBaseline 24 Oct 2026
      Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children

      PMID: 29522070

      Gene: TRPM1

      HGNC: 7146

      Disease: congenital stationary night blindness 1C

      MONDO: MONDO:0013183

      InheritancePattern: autosomal recessive

      Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1C specifically is unknown.

      Penetrance: Penetrance is thought to be complete.

      General ClinGen Gene:TRPM1 HGNC:7146 inferred_gene_hgnc:7146 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC5876850/
  64. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes
    1
    1. ClingenBaseline 24 Oct 2026
      Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes

      PMID: 26518167

      Gene: BBS7

      HGNC: 18758

      Disease: Bardet-Biedl syndrome 7

      MONDO: 0014435

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of BBS7 variants among Bardet-Biedl syndrome cohorts has been reported at 4.2% (PMID: 19402160), while the prevalence of Bardet-Biedl syndrome overall has been estimated between 1 in 13,500 and 1 in 160,000 live births, depending on the population (PMID: 22713813).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.

      General ClinGen Gene:BBS7 HGNC:18758 inferred_gene_hgnc:18758 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/26518167/
  65. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa
    1
    1. ClingenBaseline 24 Oct 2026
      Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

      PMID: 18976725

      Gene: EYS

      HGNC: 21555

      Disease: Retinitis pigmentosa 25

      MONDO: MONDO:0011272

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa caused by homozygous or compound heterozygous EYS variants is estimated to be 12% in the French population (PMID: 20333770), implying in an overall prevalence between 1 in 25,000 and 1 in 33,000.

      Penetrance: The disease appears to be completely penetrant among published families.

      General ClinGen Gene:EYS HGNC:21555 inferred_gene_hgnc:21555 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC2668042/
  66. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia
    1
    1. ClingenBaseline 24 Oct 2026
      Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia

      PMID: 21127010

      Gene: PDE6C

      HGNC: 8787

      Disease: cone dystrophy 4

      MONDO: 0013129

      InheritancePattern: recessive

      Prevalence: cone dystrophy in general is estimated to have a prevalence of 1 in 40,000 (PMID: 30578485).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.

      General ClinGen Gene:PDE6C HGNC:8787 inferred_gene_hgnc:8787 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC3269206/
  67. www.nature.com www.nature.com
    Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle
    1
    1. ClingenBaseline 24 Oct 2026
      Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle

      PMID: 9843205

      Gene: RPE65

      HGNC: 10294

      Disease: Leber congenital amaurosis 2

      MONDO: 0008765

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by RPE65 variants is between 1% and 16.7%. Thus, the prevalence of Leber congenital amaurosis 2 is between 1 in 200,000 and 1 in 10,000,000.

      Penetrance: Fully penetrant, with onset typically by 1 year of age

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
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    nature.com/articles/ng1298_344
  68. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration
    1
    1. ClingenBaseline 24 Oct 2026
      Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration

      PMID: 11095629

      Gene: RPE65

      HGNC: 10294

      Disease: Retinitis pigmentosa 20

      MONDO: 0013425

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of recessive Retinitis pigmentosa caused by RPE65 variants is ~2%. (PMID: 9501220) Thus, the prevalence of Retinitis pigmentosa 20 is between 1 in 150,000 and 1 in 200,000.

      Penetrance: Fully penetrant, with onset typically in childhood

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/11095629/
  69. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness
    1
    1. ClingenBaseline 24 Oct 2026
      Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness

      PMID: 15331616

      Gene: NYX

      HGNC: 8082

      Disease: Congenital stationary night blindness 1A

      MONDO: 0010690

      InheritancePattern: X-linked recessive

      Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1A specifically is unknown.

      Penetrance: Penetrance is thought to be complete.

      General ClinGen Gene:NYX HGNC:8082 inferred_gene_hgnc:8082 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/15331616/
  70. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation
    1
    1. ClingenBaseline 24 Oct 2026
      Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation

      PMID: 18775863

      Gene: PDE6A

      HGNC: 8785

      Disease: retinitis pigmentosa 43

      MONDO: MONDO:0013437

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a recessive mode of inheritance is estimated to be 65-85% (between 1 in 3,500 and 1 in 6,200). Retinitis pigmentosa 43 is considered to be make up 2-5% of these cases, with an overall prevalence estimated between 1 in 70,000 and 1 in 310,000.

      Penetrance: Known disease-causing alleles appear to be completely penetrant.

      General ClinGen Gene:PDE6A HGNC:8785 inferred_gene_hgnc:8785 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC3720143/
  71. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutations in spliceosomal proteins and retina degeneration
    1
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    pubmed.ncbi.nlm.nih.gov/27302685/
  72. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Photoreceptor Structure in GNAT2-Associated Achromatopsia
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC7401776/
  73. www.aaojournal.org www.aaojournal.org
    Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes
    1
    1. ClingenBaseline 24 Oct 2026
      Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes

      PMID: 25085631

      Gene: IMPG2

      HGNC: 18362

      Disease: retinitis pigmentosa 56

      MONDO: 0013314

      InheritancePattern: semi-dominant

      Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.

      General ClinGen Gene:IMPG2 HGNC:18362 inferred_gene_hgnc:18362 inferred_gene_source:hgnc_tag Retina GCEP
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    aaojournal.org/article/S0161-6420(14)00544-2/fulltext
  74. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Complex of BBS1 and NPHP7 Is Required for Cilia Motility in Zebrafish
    1
    1. ClingenBaseline 24 Oct 2026
      A Complex of BBS1 and NPHP7 Is Required for Cilia Motility in Zebrafish

      PMID: 24069149

      Gene: BBS1

      HGNC: 966

      Disease: Bardet-Biedl syndrome 1

      MONDO: 0008854

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of BBS1 variants among Bardet-Biedl syndrome cohorts has been reported as at least 20% (PMID: 19402160), while the prevalence of Bardet-Biedl syndrome overall has been estimated between 1 in 13,500 and 1 in 160,000 live births, depending on the population (PMID: 22713813).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.

      General ClinGen Gene:BBS1 HGNC:966 inferred_gene_hgnc:966 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC3771994/
  75. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy
    1
    1. ClingenBaseline 24 Oct 2026
      Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy

      PMID: 19536307

      Gene: TIMP3

      HGNC: 11822

      Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy

      MONDO: 0007640

      InheritancePattern: Autosomal Dominant

      Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)

      Penetrance: Fully penetrant, onset between the third and sixth decades of life

      General ClinGen Gene:TIMP3 HGNC:11822 inferred_gene_hgnc:11822 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC2697491/
  76. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60
    1
    1. ClingenBaseline 24 Oct 2026
      X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60

      PMID: 9855162

      Gene: RPGR

      HGNC: 10295

      Disease: RPGR-related retinopathy

      MONDO: MONDO:0100437

      InheritancePattern: X-linked

      Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).

      Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.

      General ClinGen Gene:RPGR HGNC:10295 inferred_gene_hgnc:10295 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/9855162/
  77. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities
    1
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    pubmed.ncbi.nlm.nih.gov/23189188/
  78. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis
    1
    1. ClingenBaseline 24 Oct 2026
      Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis

      PMID: 30319355

      Gene: GUCY2D

      HGNC: 4689

      Disease: Cone-rod dystrophy 6

      MONDO: 0011143

      InheritancePattern: Autosomal Dominant

      Prevalence: The overall prevalence of cone-rod dystrophy is between 1 in 30,000 and 1 in 40,000 (PMID: 17270046), while the proportion of cone-rod dystrophy caused by GUCY2D variants is between 19% and 23% (PMID: 22183351, PMID: 25515582). Thus, the prevalence of cone-rod dystrophy 6 is between 1 in 130,000 and 1 in 215,000.

      Penetrance: Penetrance is age-dependent, with onset between the 1st and 6th decades of life.

      General ClinGen Gene:GUCY2D HGNC:4689 inferred_gene_hgnc:4689 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC6167591/
  79. iovs.arvojournals.org iovs.arvojournals.org
    Identification of the Gene and the Mutation Responsible for the Mouse nob Phenotype
    1
    1. ClingenBaseline 24 Oct 2026
      Identification of the Gene and the Mutation Responsible for the Mouse nob Phenotype

      PMID: 12506099

      Gene: NYX

      HGNC: 8082

      Disease: Congenital stationary night blindness 1A

      MONDO: 0010690

      InheritancePattern: X-linked recessive

      Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1A specifically is unknown.

      Penetrance: Penetrance is thought to be complete.

      General ClinGen Gene:NYX HGNC:8082 inferred_gene_hgnc:8082 inferred_gene_source:hgnc_tag Retina GCEP
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    iovs.arvojournals.org/article.aspx
  80. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration
    1
    1. ClingenBaseline 24 Oct 2026
      Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration

      PMID: 18179896

      Gene: KCNJ13

      HGNC: 6259

      Disease: snowflake vitreoretinal degeneration

      MONDO: 0008663

      InheritancePattern: autosomal dominant

      Prevalence: The overall prevalence of snowflake vitreoretinal degeneration is ~1 in 1,000,000 (https://www.orpha.net/en/disease/detail/91496).

      Penetrance: Known disease-causing alleles appear to be completely penetrant (PMID: 14644728).

      General ClinGen Gene:KCNJ13 HGNC:6259 inferred_gene_hgnc:6259 inferred_gene_source:hgnc_tag Retina GCEP
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    pmc.ncbi.nlm.nih.gov/articles/PMC2253967/
  81. www.pnas.org www.pnas.org
    Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis
    1
    1. ClingenBaseline 24 Oct 2026
      Leber congenital amaurosis

      PMID: 9501220

      Gene: RPE65

      HGNC: 10294

      Disease: Leber congenital amaurosis 2

      MONDO: 0008765

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by RPE65 variants is between 1% and 16.7%. Thus, the prevalence of Leber congenital amaurosis 2 is between 1 in 200,000 and 1 in 10,000,000.

      Penetrance: Fully penetrant, with onset typically by 1 year of age

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
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    pnas.org/content/95/6/3088
  82. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
    1
    1. ClingenBaseline 24 Oct 2026
      Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

      PMID: 12118255

      Gene: BBS1

      HGNC: 966

      Disease: Bardet-Biedl syndrome 1

      MONDO: 0008854

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of BBS1 variants among Bardet-Biedl syndrome cohorts has been reported as at least 20% (PMID: 19402160), while the prevalence of Bardet-Biedl syndrome overall has been estimated between 1 in 13,500 and 1 in 160,000 live births, depending on the population (PMID: 22713813).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.

      General ClinGen Gene:BBS1 HGNC:966 inferred_gene_hgnc:966 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/12118255/
  83. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
    1
    1. ClingenBaseline 24 Oct 2026
      Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

      PMID: 22503633

      Gene: IFT140

      HGNC: 29077

      Disease: Short-rib thoracic dysplasia 9 with or without polydactyly

      MONDO: 0009964

      InheritancePattern: autosomal recessive

      Prevalence: Within the lumped disease entity for this curation, the most prevalent form may be retinitis pigmentosa. The prevalence of Saldino-Mainzer syndrome (one of the synonyms of Short-rib thoracic dysplasia 9) is less than 1 in 1,000,000. The prevalence of Leber congenital amaurosis cases caused by IFT140 variants (PMID: 26216056) is calculated to be less than 1 in 3,000,000. Although IFT140 variants are estimated to be responsible for less than 2% of RP, the prevalence of the overall disorder at 1 in 3,000 or 1 in 4,000 means the frequency of these cases could potentially be higher than 1 in 1,000,000.

      Penetrance: Known variants for this lumped disease entity appear to be completely penetrant, with highly variable phenotypes and age of onset. On the other hand, the split disease entity caused by monoallelic IFT140 variants appears to have incomplete penetrance.

      General ClinGen Gene:IFT140 HGNC:29077 inferred_gene_hgnc:29077 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC3376548/
  84. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.
    1
    1. ClingenBaseline 24 Oct 2026
      Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.

      PMID: 8981947

      Gene: TIMP3

      HGNC: 11822

      Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy

      MONDO: 0007640

      InheritancePattern: Autosomal Dominant

      Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)

      Penetrance: Fully penetrant, onset between the third and sixth decades of life

      General ClinGen Gene:TIMP3 HGNC:11822 inferred_gene_hgnc:11822 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC1712563/
  85. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene
    1
    1. ClingenBaseline 24 Oct 2026
      Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene

      PMID: 15623792

      Gene: CRB1

      HGNC: 2343

      Disease: pigmented paravenous retinochoroidal atrophy

      MONDO: 0008246

      InheritancePattern: autosomal dominant

      Prevalence: Orphanet defines pigmented paravenous retinochoroidal atrophy as a rare disorder with incidence lower than 1 in 1,000,000. However, the incidence is not well-reported in published papers and may be more common than this.

      Penetrance: The paper reporting affected family members shows 6 affected genotype-positive individuals and 1 unaffected genotype-negative individual. On the other hand, the high frequency of the variant in gnomAD would be consistent with incomplete penetrance or low rate of diagnosis.

      General ClinGen Gene:CRB1 HGNC:2343 inferred_gene_hgnc:2343 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/15623792/
  86. iovs.arvojournals.org iovs.arvojournals.org
    A Homozygosity-Based Search for Mutations in Patients with Autosomal Recessive Retinitis Pigmentosa, Using Microsatellite Markers
    1
    1. ClingenBaseline 24 Oct 2026
      A Homozygosity-Based Search for Mutations in Patients with Autosomal Recessive Retinitis Pigmentosa, Using Microsatellite Markers

      PMID: 15557452

      Gene: RPE65

      HGNC: 10294

      Disease: Retinitis pigmentosa 20

      MONDO: 0013425

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of recessive Retinitis pigmentosa caused by RPE65 variants is ~2%. (PMID: 9501220) Thus, the prevalence of Retinitis pigmentosa 20 is between 1 in 150,000 and 1 in 200,000.

      Penetrance: Fully penetrant, with onset typically in childhood

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
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    iovs.arvojournals.org/article.aspx
  87. link.springer.com link.springer.com
    A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby’s fundus dystrophy with unusual clinical features
    1
    1. ClingenBaseline 24 Oct 2026
      A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby’s fundus dystrophy with unusual clinical features

      PMID: 9760202

      Gene: TIMP3

      HGNC: 11822

      Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy

      MONDO: 0007640

      InheritancePattern: Autosomal Dominant

      Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)

      Penetrance: Fully penetrant, onset between the third and sixth decades of life

      General ClinGen Gene:TIMP3 HGNC:11822 inferred_gene_hgnc:11822 inferred_gene_source:hgnc_tag Retina GCEP
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    link.springer.com/article/10.1007/PL00008707
  88. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Spectrum of retGC1 mutations in Leber's congenital amaurosis
    1
    1. ClingenBaseline 24 Oct 2026
      Spectrum of retGC1 mutations in Leber's congenital amaurosis

      PMID: 10951519

      Gene: GUCY2D

      HGNC: 4689

      Disease: Leber congenital amaurosis 1

      MONDO: 0008764

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by GUCY2D variants is between 10% and 20% (PMID: 10951519). Thus, the prevalence of Leber congenital amaurosis 1 is between 1 in 165,000 and 1 in 1,000,000.

      Penetrance: Fully penetrant, with onset in neonates or in infancy

      General ClinGen Gene:GUCY2D HGNC:4689 inferred_gene_hgnc:4689 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/10951519/
  89. iovs.arvojournals.org iovs.arvojournals.org
    A Mouse Model for Sorsby Fundus Dystrophy
    1
    1. ClingenBaseline 24 Oct 2026
      A Mouse Model for Sorsby Fundus Dystrophy

      PMID: 12147610

      Gene: TIMP3

      HGNC: 11822

      Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy

      MONDO: 0007640

      InheritancePattern: Autosomal Dominant

      Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)

      Penetrance: Fully penetrant, onset between the third and sixth decades of life

      General ClinGen Gene:TIMP3 HGNC:11822 inferred_gene_hgnc:11822 inferred_gene_source:hgnc_tag Retina GCEP
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    iovs.arvojournals.org/article.aspx
  90. www.molvis.org www.molvis.org
    The clinical features of retinal disease due to a dominant mutation in RPE65
    1
    1. ClingenBaseline 24 Oct 2026
      The clinical features of retinal disease due to a dominant mutation in RPE65

      PMID: 27307694

      Gene: RPE65

      HGNC: 10294

      Disease: Retinitis pigmentosa 87 with choroidal involvement

      MONDO: 0032873

      InheritancePattern: Autosomal Dominant

      Prevalence: The overall prevalence of Retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of Retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,000 and 1 in 27,000). The prevalence of Retinitis pigmentosa 87 with choroidal involvement is considered to be much lower.

      Penetrance: Incomplete penetrance, estimated at 80%

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
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    molvis.org/molvis/v22/626/
  91. www.jbc.org www.jbc.org
    SOST Is a Ligand for LRP5/LRP6 and a Wnt Signaling Inhibitor *
    1
    1. ClingenBaseline 24 Oct 2026
      SOST Is a Ligand for LRP5/LRP6 and a Wnt Signaling Inhibitor

      PMID: 15908424

      Gene: LRP5

      HGNC: 6697

      Disease: osteoporosis-pseudoglioma syndrome

      MONDO: 0009820

      InheritancePattern: autosomal recessive

      Prevalence: osteoporosis-pseudoglioma syndrome is estimated to occur in 1 out of every 2,000,000 live births.

      Penetrance: The penetrance of the phenotype among homozygous or compound heterozygous cases appears to be complete, while heterozygous carriers of deleterious variants appear to be mildly affected.

      General ClinGen Gene:LRP5 HGNC:6697 inferred_gene_hgnc:6697 inferred_gene_source:hgnc_tag Retina GCEP
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    jbc.org/article/S0021-9258(20)56693-3/fulltext
  92. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Maternal transmission of RBP4 congenital eye disease: can Vitamin A help?
    1
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    pubmed.ncbi.nlm.nih.gov/36342076/
  93. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice
    1
    1. ClingenBaseline 24 Oct 2026
      Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

      PMID: 19409519

      Gene: ADAM9

      HGNC: 216

      Disease: cone-rod dystrophy 9

      MONDO: MONDO:0013002

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of cone-rod dystrophy in general is estimated to be 1 in 40,000 (PMID: 17270046), however, the specific prevalence of cone-rod dystrophy 9 is unknown.

      Penetrance: Penetrance appears to be complete in reported families, but it is possible that incomplete penetrance may be associated with some variants.

      General ClinGen Gene:ADAM9 HGNC:216 inferred_gene_hgnc:216 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC2681008/
  94. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa
    1
    1. ClingenBaseline 24 Oct 2026
      Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa

      PMID: 11427722

      Gene: PRPH2

      HGNC: 9942

      Disease: retinitis pigmentosa 7

      MONDO: 0011974

      InheritancePattern: semi-dominant

      Prevalence: The incidence of PRPH2-related cases among inherited retinal dystrophies is reported to range from 3.5% in North America to 10.3% in France (PMID: 36010202).

      Penetrance: The penetrance among biallelic cases appears to be complete, while the monoallelic cases exhibit incomplete penetrance (PMID: 36609934).

      General ClinGen Gene:PRPH2 HGNC:9942 inferred_gene_hgnc:9942 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/11427722/
  95. www.cell.com www.cell.com
    A retGC-1 Mutation in Autosomal Dominant Cone-Rod Dystrophy
    1
    1. ClingenBaseline 24 Oct 2026
      A retGC-1 Mutation in Autosomal Dominant Cone-Rod Dystrophy

      PMID: 9683616

      Gene: GUCY2D

      HGNC: 4689

      Disease: Cone-rod dystrophy 6

      MONDO: 0011143

      InheritancePattern: Autosomal Dominant

      Prevalence: The overall prevalence of cone-rod dystrophy is between 1 in 30,000 and 1 in 40,000 (PMID: 17270046), while the proportion of cone-rod dystrophy caused by GUCY2D variants is between 19% and 23% (PMID: 22183351, PMID: 25515582). Thus, the prevalence of cone-rod dystrophy 6 is between 1 in 130,000 and 1 in 215,000.

      Penetrance: Penetrance is age-dependent, with onset between the 1st and 6th decades of life.

      General ClinGen Gene:GUCY2D HGNC:4689 inferred_gene_hgnc:4689 inferred_gene_source:hgnc_tag Retina GCEP
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    cell.com/ajhg/fulltext/S0002-9297(07)61509-2
  96. www.nature.com www.nature.com
    CLN5 , a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
    1
    1. ClingenBaseline 24 Oct 2026
      CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

      PMID: 9662406

      Gene: CLN5

      HGNC: 2076

      Disease: Ceroid lipofuscinosis, neuronal, 5 (also known as Finnish variant late infantile neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis late infantile Finnish variant, or Finnish vLINCL)

      MONDO: 0009745

      InheritancePattern: Autosomal Recessive

      Prevalence: Unknown, but part of a larger group of NCL disorders with a collective prevalence between 1 in 12,500 (PMID:9662406) and 1 in 100,000 (PMID:23374165)

      Penetrance: Fully penetrant, with onset often in the late infantile period but in some cases during early adulthood or even as late as in the 6th decade of life

      General ClinGen Gene:CLN5 HGNC:2076 inferred_gene_hgnc:2076 inferred_gene_source:hgnc_tag Retina GCEP
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    nature.com/articles/ng0798_286
  97. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    X-linked recessive atrophic macular degeneration from RPGR mutation
    1
    1. ClingenBaseline 24 Oct 2026
      X-linked recessive atrophic macular degeneration from RPGR mutation

      PMID: 12160730

      Gene: RPGR

      HGNC: 10295

      Disease: RPGR-related retinopathy

      MONDO: MONDO:0100437

      InheritancePattern: X-linked

      Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).

      Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.

      General ClinGen Gene:RPGR HGNC:10295 inferred_gene_hgnc:10295 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/12160730/
  98. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Biochemical analysis of phenotypic diversity associated with mutations in codon 244 of the retinal degeneration slow gene
    1
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    pubmed.ncbi.nlm.nih.gov/20055437/
  99. www.pnas.org www.pnas.org
    Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone–rod dystrophy
    1
    1. ClingenBaseline 24 Oct 2026
      Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone–rod dystrophy

      PMID: 10430891

      Gene: GUCY2D

      HGNC: 4689

      Disease: Cone-rod dystrophy 6

      MONDO: 0011143

      InheritancePattern: Autosomal Dominant

      Prevalence: The overall prevalence of cone-rod dystrophy is between 1 in 30,000 and 1 in 40,000 (PMID: 17270046), while the proportion of cone-rod dystrophy caused by GUCY2D variants is between 19% and 23% (PMID: 22183351, PMID: 25515582). Thus, the prevalence of cone-rod dystrophy 6 is between 1 in 130,000 and 1 in 215,000.

      Penetrance: Penetrance is age-dependent, with onset between the 1st and 6th decades of life.

      General ClinGen Gene:GUCY2D HGNC:4689 inferred_gene_hgnc:4689 inferred_gene_source:hgnc_tag Retina GCEP
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    pnas.org/content/96/16/9039
  100. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition
    1
    1. ClingenBaseline 24 Oct 2026
      The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition

      PMID: 11071390

      Gene: NR2E3

      HGNC: 7974

      Disease: enhanced S-cone syndrome

      MONDO: 0100288

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of enhanced S cone syndrome is <1 in 1,000,000 (PMID: 30900587).

      Penetrance: The penetrance of enhanced S-cone syndrome has been difficult to determine accurately given the rarity of the condition.

      General ClinGen Gene:NR2E3 HGNC:7974 inferred_gene_hgnc:7974 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/11071390/
  101. jamanetwork.com jamanetwork.com
    Clinical Course and Visual Function in a Family With Mutations in the RPE65 Gene
    1
    1. ClingenBaseline 24 Oct 2026
      Clinical Course and Visual Function in a Family With Mutations in the RPE65 Gene

      PMID: 11786058

      Gene: RPE65

      HGNC: 10294

      Disease: Leber congenital amaurosis 2

      MONDO: 0008765

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by RPE65 variants is between 1% and 16.7%. Thus, the prevalence of Leber congenital amaurosis 2 is between 1 in 200,000 and 1 in 10,000,000.

      Penetrance: Fully penetrant, with onset typically by 1 year of age

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
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    jamanetwork.com/journals/jamaophthalmology/fullarticle/269306
  102. www.cell.com www.cell.com
    Low-Density Lipoprotein Receptor-Related Protein-5 Binds to Axin and Regulates the Canonical Wnt Signaling Pathway
    1
    1. ClingenBaseline 24 Oct 2026
      Low-Density Lipoprotein Receptor-Related Protein-5 Binds to Axin and Regulates the Canonical Wnt Signaling Pathway

      PMID: 11336703

      Gene: LRP5

      HGNC: 6697

      Disease: osteoporosis-pseudoglioma syndrome

      MONDO: 0009820

      InheritancePattern: autosomal recessive

      Prevalence: osteoporosis-pseudoglioma syndrome is estimated to occur in 1 out of every 2,000,000 live births.

      Penetrance: The penetrance of the phenotype among homozygous or compound heterozygous cases appears to be complete, while heterozygous carriers of deleterious variants appear to be mildly affected.

      General ClinGen Gene:LRP5 HGNC:6697 inferred_gene_hgnc:6697 inferred_gene_source:hgnc_tag Retina GCEP
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    cell.com/molecular-cell/fulltext/S1097-2765(01)00224-6
  103. academic.oup.com academic.oup.com
    Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype
    1
    1. ClingenBaseline 24 Oct 2026
      Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype

      PMID: 26188004

      Gene: PDE6A

      HGNC: 8785

      Disease: retinitis pigmentosa 43

      MONDO: MONDO:0013437

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a recessive mode of inheritance is estimated to be 65-85% (between 1 in 3,500 and 1 in 6,200). Retinitis pigmentosa 43 is considered to be make up 2-5% of these cases, with an overall prevalence estimated between 1 in 70,000 and 1 in 310,000.

      Penetrance: Known disease-causing alleles appear to be completely penetrant.

      General ClinGen Gene:PDE6A HGNC:8785 inferred_gene_hgnc:8785 inferred_gene_source:hgnc_tag Retina GCEP
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    academic.oup.com/hmg/article/24/19/5486/584002
  104. link.springer.com link.springer.com
    Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene
    1
    1. ClingenBaseline 24 Oct 2026
      Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene

      PMID: 12397430

      Gene: NYX

      HGNC: 8082

      Disease: Congenital stationary night blindness 1A

      MONDO: 0010690

      InheritancePattern: X-linked recessive

      Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1A specifically is unknown.

      Penetrance: Penetrance is thought to be complete.

      General ClinGen Gene:NYX HGNC:8082 inferred_gene_hgnc:8082 inferred_gene_source:hgnc_tag Retina GCEP
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    link.springer.com/article/10.1007/s00417-002-0562-z
  105. www.nature.com www.nature.com
    A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene
    1
    1. ClingenBaseline 24 Oct 2026
      A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene

      PMID: 27601084

      Gene: TIMP3

      HGNC: 11822

      Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy

      MONDO: 0007640

      InheritancePattern: Autosomal Dominant

      Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)

      Penetrance: Fully penetrant, onset between the third and sixth decades of life

      General ClinGen Gene:TIMP3 HGNC:11822 inferred_gene_hgnc:11822 inferred_gene_source:hgnc_tag Retina GCEP
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    nature.com/articles/srep32544
  106. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    EYS is a major gene for rod-cone dystrophies in France
    1
    1. ClingenBaseline 24 Oct 2026
      PMID: 20333770

      PMID: 20333770

      Gene: EYS

      HGNC: 21555

      Disease: Retinitis pigmentosa 25

      MONDO: MONDO:0011272

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa caused by homozygous or compound heterozygous EYS variants is estimated to be 12% in the French population (PMID: 20333770), implying in an overall prevalence between 1 in 25,000 and 1 in 33,000.

      Penetrance: The disease appears to be completely penetrant among published families.

      General ClinGen Gene:EYS HGNC:21555 inferred_gene_hgnc:21555 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/20333770/
  107. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens
    1
    1. ClingenBaseline 24 Oct 2026
      A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

      PMID: 8485575

      Gene: PRPH2

      HGNC: 9942

      Disease: retinitis pigmentosa 7

      MONDO: 0011974

      InheritancePattern: semi-dominant

      Prevalence: The incidence of PRPH2-related cases among inherited retinal dystrophies is reported to range from 3.5% in North America to 10.3% in France (PMID: 36010202).

      Penetrance: The penetrance among biallelic cases appears to be complete, while the monoallelic cases exhibit incomplete penetrance (PMID: 36609934).

      General ClinGen Gene:PRPH2 HGNC:9942 inferred_gene_hgnc:9942 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/8485575/
  108. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13
    1
    1. ClingenBaseline 24 Oct 2026
      Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13

      PMID: 8641699

      Gene: GUCY2D

      HGNC: 4689

      Disease: Leber congenital amaurosis 1

      MONDO: 0008764

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by GUCY2D variants is between 10% and 20% (PMID: 10951519). Thus, the prevalence of Leber congenital amaurosis 1 is between 1 in 165,000 and 1 in 1,000,000.

      Penetrance: Fully penetrant, with onset in neonates or in infancy

      General ClinGen Gene:GUCY2D HGNC:4689 inferred_gene_hgnc:4689 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/8641699/
  109. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The network of protein–protein interactions within the human U4/U6.U5 tri-snRNP
    1
    1. ClingenBaseline 24 Oct 2026
      The network of protein–protein interactions within the human U4/U6.U5 tri-snRNP

      PMID: 16723661

      Gene: PRPF4

      HGNC: 17349

      Disease: retinitis pigmentosa 70

      MONDO: 0014400

      InheritancePattern: autosomal dominant

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,500 and 1 in 27,000). The proportion of that incidence made up by the specific form caused by variants in PRPF4 is not clear.

      Penetrance: Known disease-causing alleles appear to be incompletely penetrant (PMID: 25383878).

      General ClinGen Gene:PRPF4 HGNC:17349 inferred_gene_hgnc:17349 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC1484429/
  110. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness
    1
    1. ClingenBaseline 24 Oct 2026
      Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

      PMID: 16960802

      Gene: CABP4

      HGNC: 1386

      Disease: cone-rod synaptic disorder, congenital nonprogressive

      MONDO: 0012490

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of the Åland eye disease or incomplete congenital stationary night blindness phenotype was estimated at 1 in 22,000 based on a Danish male cohort, with CABP4 variants specifically responsible for 1 out of 35 cases (PMID: 28002560).

      Penetrance: Penetrance appears to be 100% among the reported individuals harboring biallelic disease-causing CABP4 variants.

      General ClinGen Gene:CABP4 HGNC:1386 inferred_gene_hgnc:1386 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/16960802/
  111. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa
    1
    1. ClingenBaseline 24 Oct 2026
      Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa

      PMID: 11297544

      Gene: PRPH2

      HGNC: 9942

      Disease: retinitis pigmentosa 7

      MONDO: 0011974

      InheritancePattern: semi-dominant

      Prevalence: The incidence of PRPH2-related cases among inherited retinal dystrophies is reported to range from 3.5% in North America to 10.3% in France (PMID: 36010202).

      Penetrance: The penetrance among biallelic cases appears to be complete, while the monoallelic cases exhibit incomplete penetrance (PMID: 36609934).

      General ClinGen Gene:PRPH2 HGNC:9942 inferred_gene_hgnc:9942 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/11297544/
  112. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)
    1
    1. ClingenBaseline 24 Oct 2026
      Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)

      PMID: 10953198

      Gene: CLN5

      HGNC: 2076

      Disease: Ceroid lipofuscinosis, neuronal, 5 (also known as Finnish variant late infantile neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis late infantile Finnish variant, or Finnish vLINCL)

      MONDO: 0009745

      InheritancePattern: Autosomal Recessive

      Prevalence: Unknown, but part of a larger group of NCL disorders with a collective prevalence between 1 in 12,500 (PMID:9662406) and 1 in 100,000 (PMID:23374165)

      Penetrance: Fully penetrant, with onset often in the late infantile period but in some cases during early adulthood or even as late as in the 6th decade of life

      General ClinGen Gene:CLN5 HGNC:2076 inferred_gene_hgnc:2076 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/10953198/
  113. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification and characterization of human genes encoding Hprp3p and Hprp4p, interacting components of the spliceosome
    1
    1. ClingenBaseline 24 Oct 2026
      Identification and characterization of human genes encoding Hprp3p and Hprp4p, interacting components of the spliceosome

      PMID: 9328476

      Gene: PRPF4

      HGNC: 17349

      Disease: retinitis pigmentosa 70

      MONDO: 0014400

      InheritancePattern: autosomal dominant

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,500 and 1 in 27,000). The proportion of that incidence made up by the specific form caused by variants in PRPF4 is not clear.

      Penetrance: Known disease-causing alleles appear to be incompletely penetrant (PMID: 25383878).

      General ClinGen Gene:PRPF4 HGNC:17349 inferred_gene_hgnc:17349 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/9328476/
  114. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Abnormal angiogenesis in blood outgrowth endothelial cells derived from von Willebrand disease patients
    1
    1. ClingenBaseline 24 Oct 2026
      T1-2

      Case: T1-2, female, 52yo

      DiseaseAssertion: VWD1

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs:

      CaseHPOFreeText: Blood type: O+, bleeding score = 12, VWF:Ag (IU/mL) = 0.14; VWF:RCo (IU/mL) = 0.13; FVIII:C (IU/mL) = 0.46

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: qRT-PCR

      PreviouslyPublished:

      Gene: VWF

      Variant: c.221-977_532+7059del

      HGVS: NM_000552.5(VWF):c.221-977_532+7059del

      ClinVarID: 156329; https://www.ncbi.nlm.nih.gov/clinvar/variation/156329/?oq=c.221-977_532+7059del&m=NM_000552.5(VWF):c.221-977_532%207059del

      CAID: n/a

      gnomAD: absent

      CaseInfo DiseaseEntity:VWD1 Gene:VWF Mutation:Intronic Zygosity:NoAssertion ClinVarID:156329 inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC5960581/
  115. www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu
    Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses
    1
    1. ClingenBaseline 24 Oct 2026
      P2

      Case: P2, F/42

      DiseaseAssertion: VWD3

      FamilyInfo: No

      ParentalGenotype: NA

      CaseHPOFreeText: The bleeding score was 12, aPTT was 58 seconds, FVIII:C was 7%, VWF:RCo was 6 IU/dL, and VWF:Ag was not determined. The VWF:RCo/VWF:Ag ratio was not available. RIPA was nearly absent, VWF multimer analysis was 2, and platelet count was 231 × 10⁹/L.

      CasePreviousTesting: NA

      GenotypingMethod: Direct sequencing of all exons, flanking intronic sequences, and the promoter of VWF was performed.

      Gene: VWF

      Variant: no mutation detected

      HGVS:

      ClinVar:

      CAID:

      gnomAD:

      inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
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    www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu/pmc/articles/PMC6660331/
  116. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Type 2N von Willebrand disease: Characterization and diagnostic difficulties
    1
    1. ClingenBaseline 24 Oct 2026

      Case: Patient D

      DiseaseAssertion: VWD2N

      FamilyInfo: Family 3

      ParentalGenotype(s):

      CasePresentingHPOs: HP:0012147, HP:0030129, HP:0030130, HP:0011871

      CaseHPOFreeText: PTsec = 37.9, FVIII U/dL = 31.1, FVIII ratio = 0.33, VWF:Ag U/dL = 95.0, VWF:FVIIIB U/dL = 23.8, VWF:FVIIIB ratio = 0.25, VWF:CB U/dL = 101.6, VWF:RCo U/dL = 112.4, RIPA % = 73.4, PlatVWF:Ag U/dL = 87.2

      CaseNOTHPOs:

      CaseNOTHPOFreeText: n/a

      CasePreviousTesting: n/a

      GenotypingMethod: "Genetic analysis was performed on exons 17-20 of the VWF gene as previously described" (PMID: 12393698)

      PreviouslyPublished: n/a

      Gene: VWF

      Variant: c.2561G>A (p.Arg854Gln); homozygous

      HGVS: NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)

      ClinVarID: 296; https://www.ncbi.nlm.nih.gov/clinvar/variation/296/?new_evidence=false

      CAID: n/a

      gnomAD: MAF (European, Finnish) = 0.005692; https://gnomad.broadinstitute.org/variant/12-6143978-C-T

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalRecessive DiseaseEntity:VWD2N Mutation:Missense Zygosity:Homozygous ClinVarID:296 inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/29115006/
  117. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Molecular characterization, recombinant protein expression, and mRNA analysis of type 3 von Willebrand disease: Studies of an Italian cohort of 10 patients
    1
    1. ClingenBaseline 24 Oct 2026
      10 F/56 <1 6 No NA c.4645G>Ta/c.7344C>Aa p.E1549Xa/p.C2448Xa 28/43 Heterozygous

      Case: 10, F, 56, Italian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: no

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: VWF:Ag (IU/dL): <1, FVIII:C (IU/dL): 6, Bleeding Score: n/a

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: Anti-VWF alloantibodies: no

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.4645G>T (p.Glu1549X), Exon 28

      c.7344C>A (p.Cys2448X), Exon 43

      Compound Heterozygous

      DiseaseEntity:VWD3 Mutation:Nonsense Zygosity:CompoundHeterozygous CAID:CA383500523 CAID:CA383490486 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    onlinelibrary.wiley.com/doi/10.1002/ajh.23265
  118. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Type 2B von Willebrand disease with or without large multimers: A distinction of the two sides of the disorder is long overdue
    2
    1. ClingenBaseline 24 Oct 2026
      5

      Case: Patient 5 (Family B), male, 26yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030132, HP:0030129, HP:0030130, HP:0011871, HP:0012147

      (Absence of large von Willebrand factor multimers, impaired ristocetin cofactor assay activity, Impaired von Willebrand factor collagen binding activity, Impaired RIPA, Reduced quantity of VWF)

      CaseHPOFreeText: blood group O, Platelet count x103/μl = 176, PFA 100 sec = >300, SPA % = 8, MADR mg/mL = 0.6, VWF:Ag U/dL = 17.6, VWF:CB U/dL = 9.2, VWF:CB ratio = 0.52, VWF:RCo U/dL = 10.4, VWF:RCo ratio = 0.59, Platelet VWF U/dL = 76.6, FVIII U/dL = 38.8, BAT F/M = 8

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3922C>T (p.Arg1308Cys)

      HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

      ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo DiseaseEntity:VWD2B Zygosity:Heterozygous Mutation:Missense ClinVarID:289 InheritancePattern:AutosomalDominant Gene:VWF inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    2. ClingenBaseline 24 Oct 2026
      19

      Case: Patient 19 (Family F), male, 44yo

      DiseaseAssertion: VWD2B

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0030132, HP:0030129, HP:0030130, HP:0011871, HP:0012147

      (Absence of large von Willebrand factor multimers, impaired ristocetin cofactor assay activity, Impaired von Willebrand factor collagen binding activity, Impaired RIPA, Reduced quantity of VWF)

      CaseHPOFreeText: blood group O, Platelet count x103/μl = 116, PFA 100 sec = >300, SPA % = 15.7, MADR mg/mL = 0.3, VWF:Ag U/dL = 44.7, VWF:CB U/dL = 11.8, VWF:CB ratio = 0.48, VWF:RCo U/dL = 11.4, VWF:RCo ratio = 0.71, Platelet VWF U/dL = 130, FVIII U/dL = 27.7, BAT F/M = 10

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: Sequencing of exon 28 of VWF

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3916C>T (p.Arg1306Trp)

      HGVS: NM_000552.4(VWF):c.3916C>T (p.Arg1306Trp)

      ClinVarID: 288; https://www.ncbi.nlm.nih.gov/clinvar/variation/288/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD2B InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense ClinVarID:288 inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC5480883/
  119. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Evaluation of an heterogeneous group of patients with von Willebrand disease using an assay alternative to ristocetin induced platelet agglutination
    2
    1. ClingenBaseline 24 Oct 2026
      I : 3

      Case#: F4, I:3

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: all mutimers present, VWF:Ag = 34; VWF:RCo = 21; VWF:GPIbM = 31; 0.62; 0.92; 1.49

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[R1308L];[=]

      HGVS: c.3923G>T (p.Arg1308Leu)

      CAID: CA6402650

      gnomAD: https://gnomad.broadinstitute.org/variant/12-6019495-C-A?dataset=gnomad_r4

      CAID: CA6402650 Mutation:Missense Zygosity:Heterozygous InheritancePattern:AutosomalDominant inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 24 Oct 2026
      I : 2

      Case#: F4, I:2

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: all mutimers present, VWF:Ag = 40; VWF:RCo = 25; VWF:GPIbM = 38; 0.63; 0.95; 1.52

      CasePreviousTesting: Not clearly described

      Gene: VWF

      Variant: p.[R1308L];[=]

      HGVS: c.3923G>T (p.Arg1308Leu)

      CAID: CA6402650

      gnomAD: https://gnomad.broadinstitute.org/variant/12-6019495-C-A?dataset=gnomad_r4

      CAID: CA6402650 InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    onlinelibrary.wiley.com/doi/full/10.1111/jth.13062
  120. www.sciencedirect.com www.sciencedirect.com
    Common large partial VWF gene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population
    2
    2. ClingenBaseline 24 Oct 2026
      193< 1< 13−−20Mc.241A>G/c.5315insGAp.R81G/p.D1772EfsX114/3116/17N/N

      Case: Patient 19, M, Hungarian

      DiseaseAssertion: VWD type 3

      FamilyInfo: compatible with recessive inheritance

      ParentalGenotype(s): n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeRext: Bleeding score: 20, VWF:Ag (IU dL−1): < 1, VWF:CB (IU dL−1): < 1, FVIII:C (IU dL−1): 3, VWF:RCo below detection limit (<10 IU dL−1), not detectable VWF on multimer gels

      CaseNOTHPOs: n/a

      CaseNOTHPOFreeText: no inhibitor detected, did not become refractory to factor replacement therapy

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.241A>G (p.Arg81Gly), Exon 4

      c.5315insGA (p.Asp1772GlufsX11), Exon 31

      Intron 40 VNTR 16/17

      Note: multimer electrophoresis, Recombinant VWF antigen concentrations and Collagen binding activity (VWF:CB) measured by ELISA, direct sequencing of the 51 exons and the exon‐intron boundaries, Breakpoint analysis and breakpoint‐specific PCR

      Mutation:Frameshift Mutation:Missense DiseaseEntity:VWD3 Zygosity:CompoundHeterozygous CAID:CA383519614 CAID:CA2695216019 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    sciencedirect.com/science/article/pii/S1538783622069197
  121. journals.plos.org journals.plos.org
    pone.0092575 1..14
    2
    1. ClingenBaseline 24 Oct 2026
      78 14 F 28 c.4525A.G p.I1509V Htz ,1 ,1 18 - -

      Case: 78, F, 14 years, Indian

      DiseaseAssertion: VWD type 3

      FamilyInfo: no family history of disease, Consanguinity: no

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: FVIII:C: (U/dl): <1, VWF:Ag (U/dl): <1, Bleeding Score: 18

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.4525A>G (p.Ile1509Val), Exon 28

      Heterozygous

      DiseaseEntity:VWD3 Zygosity:Heterozygous Mutation:Missense CAID:CA383501549 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 24 Oct 2026
      83 13 M 15 c.1812C.A p.Y604* Hmz 2 ,1 6 - -

      Case: 83, M, 13 years, Indian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: no, no family history of disease

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: FVIII:C: (U/dl): 2, VWF:Ag (U/dl): <1, Bleeding Score: 6

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.1812C>A (p.Tyr604*), Exon 15, Homozygous

      DiseaseEntity:VWD3 Zygosity:Homozygous Mutation:Nonsense CAID:CA383497186 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    journals.plos.org/plosone/article/file
  122. www.sciencedirect.com www.sciencedirect.com
    The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles
    1
    1. ClingenBaseline 24 Oct 2026
      T058F/1n/a0.010.030.02c.2443-?_2685 + ?del, c.5180_5181insTTp.Val815_Gln895del p.Leu1727 fs19–20/30Compound heterozygous

      Case: T058, F, 1

      DiseaseAssertion: VWD type 3

      FamilyInfo: insertion mutation was inherited from the father and the partial gene deletion from the mother

      CasePresentingHPOs: n/a

      CaseHPOFreeText: VWF:Ag (IU/ml): 0.01, VWF:RCo (IU/ml): 0.03, FVIII:C (IU/ml): 0.02

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.2443-?_2685 + ?del (p.Val815_Gln895del), Exon 19-20

      c.5180_5181insTT (p.Leu1727 fs), Exon 30

      Compound heterozygous

      Note: ELISA-based assay for detecting alloantibodies, genomic analysis via sequencing of leukocytes for the VWF gene including exons 1-52 and about 1.5 km of VWF promoter, PCR amplification for variant confirmation, SALSA-MLPAVWF assay evaluation for partial/total gene deletions when sequencing did not reveal pathogenic explanation

      DiseaseEntity:VWD3 Mutation:Inframe Mutation:Frameshift Zygosity:CompoundHeterozygous CAID:CA228703 Mutation:c.2443-?_2685 + ?del inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    sciencedirect.com/science/article/pii/S1538783622137827
  123. www.sciencedirect.com www.sciencedirect.com
    Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients
    3
    1. ClingenBaseline 24 Oct 2026
      26IranM/24<1—YesSevere7683delTFS45HomozygousEco57 I (+)

      Case: 26, M, 24, Iranian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: Yes

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: VWF:Ag (U/dl): <1, Bleeding symptoms: Severe

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: Anti-VWF alloantibodies: no

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      7683delT (FS), Exon 45, Homozygous

      DiseaseEntity:VWD3 Mutation:Frameshift Zygosity:Homozygous CAID:CA228814 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 24 Oct 2026
      19*IranF/112—YesSevere2116C→TQ706X16HomozygousBsrI (−)

      Case: 19, F, 11, Iranian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: Yes

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: VWF:Ag (U/dl): 2, Bleeding symptoms: Severe

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: Anti-VWF alloantibodies: no

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      2116C→T (Gln706X), Exon 16, Homozygous

      DiseaseEntity:VWD3 Mutation:Nonsense Zygosity:Homozygous PreviouslyPublished CAID:CA228307 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    3. ClingenBaseline 24 Oct 2026
      20IranF/20<1—YesSevere3931C→TQ1311X28HomozygousBfaI (+)

      Case: 20, F, 20, Iranian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: Yes

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: VWF:Ag (U/dl): <1, Bleeding symptoms: Severe

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: Anti-VWF alloantibodies: no

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      3931C→T (Gln1311X), Exon 28, Homozygous

      3951C→T (Ala1317Ala)

      Note: Mutation Gln1311X is likely due to a gene conversion; both mutations match the pseudogene sequence

      DiseaseEntity:VWD3 Mutation:Nonsense Zygosity:Homozygous CAID:CA228496 CAID:CA6402645 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    sciencedirect.com/science/article/pii/S1079979603000330
  124. www.sciencedirect.com www.sciencedirect.com
    The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study
    1
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    sciencedirect.com/science/article/pii/S0006497120521393
  125. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Clinical, Phenotypic and Genotypic Characteristics of Von Willebrand Disease in Afro-Caribbeans: Results From a Study in Martinique Island, French West Indies
    2
    1. ClingenBaseline 24 Oct 2026
      43 U

      Case: Patient 43, Family U (Table 1.), M/10, Afro-Caribbean

      DiseaseAssertion: VWD2M

      FamilyInfo: Patient 44 (M/15, Afro-Caribbean), Patient 46 (M/47, Afro-Caribbean, Patient 47(M/78, Afro-Caribbean) and Patient 48 (M/43, Afro Caribbean) also from Family U. (Table 1.)

      ParentalGenotype(s): NA

      CasePresentingHPOs:

      CaseHPOFreeRext: BAT = 0, FVIII:C (IU/dL) = 71, VWF:Ag (IU/dL) = 30, VWF:Act (IU/dL) = 40

      CaseNOTHPOs:

      CaseNOTHPOFreeText: Blood group B+

      CasePreviousTesting:

      GenotypingMethod: All samples were analyzed by captured-based high throughput sequencing which was performed with a custom-design of the VWF gene provided by Twist BioScience (San Francisco, USA). It comprised all 52 exons, intronic flanking regions, promoter and 3’UTR region of the VWF gene. Libraries were prepared by using the Twist NGS target enrichment solution (Twist BioScience) according to the manufacturer protocol. Samples were analyzed on a NovaSeq 6000 sequencer (Illumina) with a median read depth of 2500X by using the 300-cycle S1 NovaSeq 6000seq reagent kit with 150-bp paired-end reads. The raw data were analyzed with Mutect21 and Vardict2 tools. The inhouse NGSreport software (CHU Lille) was used for data visualization, sequences check and conservation of variants with high quality metrics. In some cases, patients genomic DNA was screened for sequence variations (large deletions, insertions and duplications) by Multiplex Ligation-dependent Probe Amplification (MCR Holland).

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3943C > T p.(Arg1315Cys)

      HGVS: NM_000552.5:c.3943C>T (p.Arg1315Cys)

      ClinVarID: 100310

      CAID: CA228502

      gnomAD: MAF of 8.476e-7 (1/ 1179850 alleles) in European population https://gnomad.broadinstitute.org/variant/chr12-6019161-A-C?dataset=gnomad_r4

      Variant: c.4138A > G, p.(Ile1380Val)

      HGVS: NM_000552.5:c.4138A>G (p.Ile1380Val)

      ClinVarID: 310063

      CAID: CA6402595

      gnomAD: MAF of 0.1184 (8878/74958 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6019280-T-C?dataset=gnomad_r4

      Variant: c.4304A > G, p.(Asn1435Ser)

      HGVS: NM_000552.5:c.4304A>G (p.Asn1435Ser)

      ClinVarID: 310062

      CAID: CA6402552

      gnomAD: MAF of 0.1124 (8427/74964 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6019114-T-C?dataset=gnomad_r4

      Variant: c.4414G > C p.(Asp1472His)

      HGVS: NM_000552.5:c.4414G>C (p.Asp1472His)

      ClinVarID: 256679

      CAID: CA6402534

      gnomAD: MAF of 0.5076 (38011/74882 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6019004-C-G?dataset=gnomad_r4

      Individual CaseInfo FamilyInfo Gene:VWF DiseaseEntity:VWD2M ClinVarID:100310 CAID:CA228502 ClinVarID:310063 CAID:CA6402595 ClinVarID:310062 CAID:CA6402552 ClinVarID:256679 CAID:CA6402534 AlleleOrigin:Germline Zygosity:CompoundHeterozygous inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 24 Oct 2026
      37 R

      Case: Patient 37, Family R (Table 1.), M/20, Afro-Caribbean

      DiseaseAssertion: VWD2A (IIE)

      FamilyInfo: Patient 36 (M/22, Afro-Caribbean) and Patient 38 (F/51, Afro-Caribbean) also from Family R. (Table 1.)

      ParentalGenotype(s): NA

      CasePresentingHPOs:

      CaseHPOFreeRext: BAT = 1, FVIII:C (IU/dL) = 23, VWF:Ag (IU/dL) = 10, VWF:Act (IU/dL) = 10

      CaseNOTHPOs:

      CaseNOTHPOFreeText: Blood group O+

      CasePreviousTesting:

      GenotypingMethod: All samples were analyzed by captured-based high throughput sequencing which was performed with a custom-design of the VWF gene provided by Twist BioScience (San Francisco, USA). It comprised all 52 exons, intronic flanking regions, promoter and 3’UTR region of the VWF gene. Libraries were prepared by using the Twist NGS target enrichment solution (Twist BioScience) according to the manufacturer protocol. Samples were analyzed on a NovaSeq 6000 sequencer (Illumina) with a median read depth of 2500X by using the 300-cycle S1 NovaSeq 6000seq reagent kit with 150-bp paired-end reads. The raw data were analyzed with Mutect21 and Vardict2 tools. The inhouse NGSreport software (CHU Lille) was used for data visualization, sequences check and conservation of variants with high quality metrics. In some cases, patients genomic DNA was screened for sequence variations (large deletions, insertions and duplications) by Multiplex Ligation-dependent Probe Amplification (MCR Holland).

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.1530G > A, p.(Val510 =) p.

      HGVS: NM_000552.5:c.1530G>A (p.Val510=)

      ClinVarID:

      CAID: CA6403368

      gnomAD: MAF of 0.00002198 (2/91004 alleles) in South Asian population https://gnomad.broadinstitute.org/variant/chr12-6062957-C-T?dataset=gnomad_r4

      Variant: c.1892C > T, p.(Ala631Val)

      HGVS: NM_000552.5:c.1892C>T (p.Ala631Val)

      ClinVarID: 422844

      CAID: CA6403245

      gnomAD: MAF of 0.001908 (137/71810 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6056910-G-A?dataset=gnomad_r4

      Variant: c.2220G > A, p.(Met740Ile)

      HGVS: NM_000552.5:c.2220G>A (p.Met740Ile)

      ClinVarID: 100206

      CAID: CA201316

      gnomAD: MAF of 0.1816 (13626/75022 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6046784-C-T?dataset=gnomad_r4

      Variant: c.2451T > A, p.(His817Gln)

      HGVS: NM_000552.5:c.2451T>A (p.His817Gln)

      ClinVarID: 100224

      CAID: CA228345

      gnomAD: MAF of 0.1150 (8626/75016 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6036483-A-T?dataset=gnomad_r4

      Variant: c.3445T > C, p.(Cys1149Arg)

      HGVS: NM_000552.5:c.3445T>C (p.Cys1149Arg)

      ClinVarID: 309

      CAID: CA228410

      gnomAD: MAF of 0.000003160 (1/316464 alleles) in European (non-Finnish) population https://gnomad.broadinstitute.org/variant/chr12-6022833-A-G?dataset=gnomad_r4

      Variant: c.4414G > C p.(Asp1472His)

      HGVS: NM_000552.5:c.4414G>C (p.Asp1472His)

      ClinVarID: 256679

      CAID: CA6402534

      gnomAD: MAF of 0.5076 (38011/74882 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6019004-C-G?dataset=gnomad_r4

      Variant: c.6554G > A, p.(Arg2185Gln)

      HGVS: NM_000552.5:c.6554G>A (p.Arg2185Gln)

      ClinVarID: 100443

      CAID: CA228748

      gnomAD: MAF of 0.1927 (14427/74878 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-5993906-C-T?dataset=gnomad_r4

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD2A FamilyInfo Zygosity:CompoundHeterozygous CAID:CA6403368 ClinVarID:422844 CAID:CA6403245 ClinVarID:100206 CAID:CA201316 ClinVarID:100224 CAID:CA228345 ClinVarID:309 CAID:CA228410 ClinVarID:256679 CAID:CA6402534 ClinVarID:100443 CAID:CA228748 AlleleOrigin:Germline inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pmc.ncbi.nlm.nih.gov/articles/PMC12175117/
  126. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5035592/
  127. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular and clinical profile of VWD in a large cohort of Chinese population: application of next generation sequencing and CNVplex ® technique
    3
    1. ClingenBaseline 24 Oct 2026

      Case: P1,Chinese, female, 17yo

      DiseaseAssertion: VWD1

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type O blood, bleeding score = 8; VWF:Ag (%) = 38.0, VWF:RCo (%) = 35.2, FVIII:C (%) = 59.0, VWF:CB (%) = 33.2, VWFpp (%) = 52.9, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 0.9, VWFpp/VWF:Ag = 1.4, FVIII:C/VWF:Ag = 1.6

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.6860G>A (p.Arg2287Gln)

      HGVS: NM_000552.3:c.6860G>A (p.Arg2287Gln)

      ClinVarID: NA

      CAID: CA6401877; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA6401877

      gnomAD: MAF = 0.005415 (108/19946 alleles) in the East Asian population; https://gnomad.broadinstitute.org/variant/12-6094770-C-T

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalDominant DiseaseEntity:VWD1 Mutation:Missense Zygosity:Heterozygous CAid:CA6401877 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 24 Oct 2026

      Case: P41, Chinese, female, 13yo

      DiseaseAssertion: VWD3

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type A blood, bleeding score = 18; VWF:Ag (%) = 1.6, VWF:RCo (%) = 1.5, FVIII:C (%) = 2.8, VWF:CB (%) = 1.7, VWFpp (%) = 1.3, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 1.1, VWFpp/VWF:Ag = 0.8, FVIII:C/VWF:Ag = 1.8

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.2547-13T>A - Unregistered Variant

      HGVS: NA

      ClinVarID: NA

      CAID: NA

      gnomAD: NA

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD3 InheritancePattern:AutosomalRecessive Zygosity:Homozygous Mutation:Regulatory UnregisteredVariant inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    3. ClingenBaseline 24 Oct 2026

      Case: P55, Chinese, female, 24yo

      DiseaseAssertion: VWD2A

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type O blood, bleeding score = 8; VWF:Ag (%) = 35.2, VWF:RCo (%) = 14.5, FVIII:C (%) = 57.9, VWF:CB (%) = 6.5, VWFpp (%) = 21.5, VWF:RCo/VWF:Ag = 0.4, VWF:CB/VWF:Ag = 0.2, VWFpp/VWF:Ag = 0.6, FVIII:C/VWF:Ag = 1.6

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant 1: c.1099T>G (p.Cys367Gly)

      HGVS: NM_000552.5:c.1099T>G (p.Cys367Gly)

      ClinVarID: NA

      CAID: CA383505165; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383505165

      gnomAD: absent

      Variant 2: c.1450_1451delinsAG (p.His484Se) - Unregisted Variant

      HGVS: NA

      ClinVarID: NA

      CAID: NA

      gnomAD: NA

      Variant 3: c.2423G>A (p.Cys808Tyr)

      HGVS: NM_000552.5:c.2423G>A (p.Cys808Tyr)

      ClinVarID: NA

      CAID: CA383521928; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383521928

      gnomAD: absent

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalRecessive DiseaseEntity:VWD2A Mutation:Missense Zygosity:CompoundHeterozygous UnregisteredVariant CAid:CA383505165 CAid:CA383521928 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/
  128. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype
    1
    1. ClingenBaseline 24 Oct 2026
      Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype

      PMID: 20586924

      Gene: VWF

      HGNC: 12726

      Disease: von Willebrand Disease Type 2N

      MONDO: 0015631

      InheritancePattern: Autosomal Recessive

      Prevalence: Various sources (PMID: 28847738, PMID:19809303, PMID:29115006) can be combined to estimate the prevalence of VWD Type 2N between 1:15,000 and 1:80,000.

      Penetrance: VWD type 2 is fully penetrant / nearly fully penetrant for most pathogenic variants.

      General ClinGen Gene:VWF HGNC:12726 inferred_gene_hgnc:12726 inferred_gene_source:hgnc_tag ClinGen VWF
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    onlinelibrary.wiley.com/doi/10.1111/j.1538-7836.2010.03971.x
  129. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification and Functional Analysis of a Novel von Willebrand Factor Mutation in a Family with Type 2A von Willebrand Disease
    1
    1. ClingenBaseline 24 Oct 2026
      IV-3

      Case: Patient IV-3 (son of III-3; first cousin of proband's mother IV-4) DiseaseAssertion: Type 2A VWD, based on low plasma VWF:Ag and activity and lack of plasma HMW VWF multimers. FamilyInfo: Son of III-3 (proband's granduncle); first cousin of IV-4 (proband's mother); part of 5-affected-member pedigree (Fig. 1). ParentalGenotype(s): Father (III-3) heterozygous for the variant, affected. Mother's genotype not reported. CasePresentingHPOs: HP:0012147 (Reduced quantity of VWF; VWF:Ag 19.5 U/dL), HP:0030129 (Impaired VWF:RCo; VWF:Rco 7.6 U/dL), HP:0030132 (Absence of large VWF multimers — plasma), HP:0003645 (Prolonged partial thromboplastin time; APTT 45.2 sec) CaseHPOFreeText: Described only generically as having "abnormal bleedings" / "similar clinical symptoms" — no itemized bleeding symptoms given specifically for this individual. FVIII:C 29.0 U/dL (nv 50-150). RIPA not tested (N/A). TT 18.6 sec and PT 13.4 sec both within normal range. CaseNOTHPOs: NA CaseNOTHPOFreeText: Platelet-associated VWF multimers normal (HMW multimers present) per the group finding covering this patient. CasePreviousTesting: Targeted confirmation of the familial VWF variant; not genome-wide. GenotypingMethod: Sanger sequencing/allele-specific analysis, same platform as proband. PreviouslyPublished: NA Gene: VWF Variant: Same novel heterozygous in-frame 6-bp deletion, exon 28, ΔD1529V1530 (VWF A2 domain) HGVS: c.4585_4590del (p.Asp1529_Val1530del) ClinVarID: NA CAID: NA gnomAD: NA

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalDominant DiseaseEntity:VWD2A AlleleOrigin:Germline Mutation:Inframe Zygosity:Heterozygous UnregisteredVariant FamilyInfo ParentalTest:PartialPhase` inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
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    pmc.ncbi.nlm.nih.gov/articles/PMC3314005/
  130. www.thieme-connect.com www.thieme-connect.com
    10.1055/a-2616-5161
    3
    1. ClingenBaseline 24 Oct 2026
      39 U c.4943C > T N p.Pro1648Leu 28 A2 htz Missense A 59 55 57

      Case: IP #39 in type U VWD sub-cohort (also in row 23 table 6)

      DiseaseAssertion: unclassified VWD

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: HP:0032370 - blood group A

      CaseHPOFreeRext: VWF:Ag [IU/dL] = 59; VWF:Ac [IU/dL] = 55; FVIII:C [IU/dL] = 57

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: Sequence variations in the VWF were identified through direct sequencing, while the detection of large rearrangements utilized the multiplex ligation-dependent probe amplification (MLPA) technique or assessed copy number variations (CNVs). Sanger sequencing methodology was applied for VWF analysis in patients investigated prior to 2016 (approximately 14% of IPs), whereas next-generation sequencing (NGS) was employed for the analysis of VWF in patients inspected from 2017 onwards (about 86% of IPs). In both strategies, the entire VWF, encompassing all 52 exons, intron/exon boundaries, and promoter regions, was analyzed.

      PreviouslyPublished:

      Gene: VWF

      Variant: c.4943C>T p.Pro1648Leu

      HGVS:

      ClinVarID: not found

      CAID: CA6402436

      gnomAD: 0.000008056 (13 in 1613708) no homozygotes https://gnomad.broadinstitute.org/variant/12-6018475-G-A?dataset=gnomad_r4

      CAID:CA6402436 Mutation:Missense DiseaseEntity:VWD InheritancePattern:NoInheritanceAssertion Zygosity:Heterozygous inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 24 Oct 2026
      17 Type2A (IIE)c.3434G>CN p.Arg1145Pro 26 D3-TIL-3htz Missense B 17 5GPIbR 22

      Case: IP #17 (also in row 8 table 6)

      DiseaseAssertion: type2A (IIE) VWD

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: HP:0032440 - blood group B

      CaseHPOFreeRext: VWF:Ag [IU/dL] = 17; VWF:Ac [IU/dL] = 5; FVIII:C [IU/dL] = 22

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: Sequence variations in the VWF were identified through direct sequencing, while the detection of large rearrangements utilized the multiplex ligation-dependent probe amplification (MLPA) technique or assessed copy number variations (CNVs). Sanger sequencing methodology was applied for VWF analysis in patients investigated prior to 2016 (approximately 14% of IPs), whereas next-generation sequencing (NGS) was employed for the analysis of VWF in patients inspected from 2017 onwards (about 86% of IPs). In both strategies, the entire VWF, encompassing all 52 exons, intron/exon boundaries, and promoter regions, was analyzed.

      PreviouslyPublished:

      Gene: VWF

      Variant: c.3434G>C p.Arg1145Pro

      HGVS:

      ClinVarID: not found

      CAID: CA383511377

      gnomAD: absent

      CAID:CA383511377 InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD2A Zygosity:Heterozygous inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    3. ClingenBaseline 24 Oct 2026
      41 Type2A(IIA)c.4718G>TN p.Gly1573Val 28 A2 htz Missense B 56 28 70

      Case: IP #41 (also in row 19 table 6)

      DiseaseAssertion: type 2A (IIA) VWD

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: HP:0032440 - blood group B

      CaseHPOFreeRext: VWF:Ag [IU/dL] = 56; VWF:Ac [IU/dL] = 28; FVIII:C [IU/dL] = 70

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: Sequence variations in the VWF were identified through direct sequencing, while the detection of large rearrangements utilized the multiplex ligation-dependent probe amplification (MLPA) technique or assessed copy number variations (CNVs). Sanger sequencing methodology was applied for VWF analysis in patients investigated prior to 2016 (approximately 14% of IPs), whereas next-generation sequencing (NGS) was employed for the analysis of VWF in patients inspected from 2017 onwards (about 86% of IPs). In both strategies, the entire VWF, encompassing all 52 exons, intron/exon boundaries, and promoter regions, was analyzed.

      PreviouslyPublished:

      Gene: VWF

      Variant: c.4718G>T p.Gly1573Val

      HGVS:

      ClinVarID: not found

      CAID: CA383499940

      gnomAD: absent

      CAID:CA383499940 Zygosity:Heterozygous Mutation:Missense InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD2A inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    thieme-connect.com/products/ejournals/pdf/10.1055/a-2616-5161.pdf
  131. onlinelibrary.wiley.com onlinelibrary.wiley.com
    The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms
    1
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    onlinelibrary.wiley.com/doi/10.1111/jth.15765
  132. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical and Laboratory Phenotype Variability in Type 2M Von Willebrand Disease
    1
    1. ClingenBaseline 24 Oct 2026
      p.Y1349C

      Case#: p.Y1349C, Female, Age 29, Caucasian

      Disease Assertion: VWD2M

      FamilyInfo: 5 affected family members with varied bleeding scores (range 4-14)

      Parental Genotype: Not listed

      CasePresentingHPOs:

      CaseHPOFreeText: bleeding score 8, VWF:Rco/VWF:Ag ratio 0.35, VWF:Rco 17 IU/dL, VWF:Ag 49 IU/dL,

      CaseNotHPOs:HP:0040240

      (Increased Ratio of VWF Propeptide to VWF antigen)

      CaseNotHPOFreeText: normal multimer distribution

      Protein Expression:

      CasePreviousTesting:VWF Sequencing

      Gene: VWF

      Variant: NM_000552.4:c.4046A>G (p.Tyr1349Cys)

      ClinVar: N/A

      CAID: CA383505652

      CAID

      gnomAD: N/A

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD2M Mutation:Missense CAID:CA383505652 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC5538962/
  133. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5′ splice site
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5161009/
  134. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Pharmacokinetics, efficacy, and safety of a plasma-derived VWF/FVIII concentrate (VONCENTO) for on-demand and prophylactic treatment in patients with von Willebrand disease (SWIFT-VWD study)
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5312726/
  135. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients
    3
    1. ClingenBaseline 24 Oct 2026

      Case#: 01030, Age 12, Female, Blood type:O+ (Table S3)

      Disease Assertion: VWD 1

      FamilyInfo: Not listed

      Parental Genotype: Not listed

      CasePresentingHPOs: N/A

      CaseHPOFreeText: VWF:Ag: 23, VWF:RCo: 33, FVIII:C: 51, VWF:CB: 33

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Bleeding score 2

      Protein Expression: N/A

      CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations.

      Gene: VWF

      Variant: NM_000552.4:c.2561G>A (p.Arg854Gln)

      ClinVar: 296

      ClinVar

      CAID: CA114139

      CAID

      gnomAD:MAF of 0.005692 (143/25122 alleles) in the European (Finnish) population.

      gnomAD

      Individual CaseInfo SupplementalData Zygosity:Heterozygous Mutation:Missense Gene:VWF DiseaseEntity:VWD1 InheritancePattern:NoInheritanceAssertion ClinVarID:296 CAID:CA114139 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 24 Oct 2026

      Case#: 30035, Age 55, Female, Blood Type A+ (Table S3)

      Disease Assertion: VWD 1

      FamilyInfo: The patient is the only member of Family# 3012.

      Parental Genotype: Not listed

      CasePresentingHPOs: N/A

      CaseHPOFreeText: VWF:Ag:25, VWF:RCo:16, FVIII:C:38, VWF:CB: 19

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Bleeding Score 1

      Protein Expression: N/A

      CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations.

      Gene: VWF

      Variant: NM_000552.4:c.5336G>T (p.Arg1779Leu)

      ClinVar: N/A

      CAID:CA383495656 CAID

      gnomAD: MAF of 0.00002891 (1/ 34592 alleles) in the Latino population. gnomAD

      Individual CaseInfo DiseaseEntity:VWD1 SupplementalData Gene:VWF InheritancePattern:NoInheritanceAssertion Zygosity:Heterozygous CAID:CA383495656 Mutation:Missense inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    3. ClingenBaseline 24 Oct 2026

      Case#: 14003, Age 40, Female, Blood Type O+,

      Disease Assertion: VWD 1

      FamilyInfo: The patient is the only member of Family#1403.

      Parental Genotype: Not listed

      CasePresentingHPOs: N/A

      CaseHPOFreeText: VWF:Ag:28. VWF:RCo:20,FVIII:C:61, VWF:CB:18

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Bleeding Score 6

      Protein Expression: N/A

      CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations

      Gene: VWF

      Variant: NM_000552.4:c.221-70G>T and NM_000552.4:c.478G>A

      ClinVar: N/A

      CAID: CA923726380 and CA383518171 CAID1 CAID2

      gnomAD: N/A

      Individual CaseInfo SupplementalData DiseaseEntity:VWD1 InheritancePattern:NoInheritanceAssertion Zygosity:Heterozygous CAID:CA923726380 Mutation:Intronic CAID:CA383518171 Mutation:Missense inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC5709099/
  136. www.jthjournal.org www.jthjournal.org
    An association of candidate gene haplotypes and bleeding severity in von Willebrand disease type 2A, 2B, and 2M pedigrees
    1
    1. ClingenBaseline 24 Oct 2026
      An association of candidate gene haplotypes and bleeding severity in von Willebrand disease type 2A, 2B, and 2M pedigrees

      PMID: 16409463

      Notes: several variants, currently curating c.823T>C (p.Cys275Arg) and family 11 proband is compound het with p.Pro1337Leu. Nucleotide position are not provided and the family is asserted as type B but no GPIb, RIPA or VWF platelet binding assay data are reported.

      CA228836 VWD:2 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    jthjournal.org/article/S1538-7836(22)11029-9/fulltext
  137. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Long-term impact of joint bleeds in von Willebrand disease: a nested case-control study
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5685243/
  138. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Feasibility of the Von Willebrand disease PREVENT trial
    1
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0049384817303407
  139. www.sciencedirect.com www.sciencedirect.com
    Dominant Type 1 von Willebrand Disease Caused by Mutated Cysteine Residues in the D3 Domain of von Willebrand Factor
    1
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    sciencedirect.com/science/article/pii/S0006497120623357
  140. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease
    1
    1. ClingenBaseline 24 Oct 2026

      Case: Case 1, female, newborn

      DiseaseAssertion: VWD2B

      FamilyInfo: second child of couple without family history of bleeding, Detection of maternal alloantibodies against HPA antigens present on paternal platelets showed weak cross reactivity, Analysis of platelet genotype for HPA-1, 2, 3, 5, and HPA-15 alleles by PCR-SSP performed in both parents, showed a possible incompatibility in HPA-1b and HPA-5b, No maternal anti-HPA antibody was detected using monoclonal antibody-specific immobilization of platelet antigen method directed against HPA-1, 3, 4, HPA-2, and HPA-5 antigens

      ParentalGenotype(s): variant absent in both parents

      CasePresentingHPOs: HP:0000967, HP:0001873, HP:0030129

      (petechia, thrombocytopenia, impaired ristocetin cofactor assay activity)

      CaseHPOFreeText: Delivered at 40wks, VWF:RCo = 8 IU dL−1, VWF:Ag = 105 IU dL−1, VWF:RCo/VWF:Ag < 0.1, FVIII:C = 94 IU dL−1, RIPA not tested due to low platelet count

      CaseNOTHPOs: HP:0032169

      (infection)

      CaseNOTHPOFreeText: DIC, spontaneous bleeding

      CasePreviousTesting: NA

      GenotypingMethod: sequencing of the whole exon 28 of VWF gene

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.4379T>C (Leu1460Pro)

      HGVS: NM_000552.3:c.4379T>C (Leu1460Pro)

      ClinVarID: NA

      CAID: CA383502290; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383502290

      gnomAD: absent

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalDominant DiseaseEntity:VWD2B Mutation:Missense Zygosity:Heterozygous CAid:CA383502290 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28436749/
  141. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Screening of female family members of von Willebrand disease patients: utility of a modified screening tool in a high‐risk population
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.13188