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  1. Last 7 days
  2. 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
    1
    1. ClingenBaseline 25 Oct 2026

      Case: P81, Chinese, female, 30yo

      DiseaseAssertion: VWD1

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: type A blood, bleeding score = 7; VWF:Ag (%) = 5.0, VWF:RCo (%) = 5.3, FVIII:C (%) = 6.1, VWF:CB (%) = 6.8, VWFpp (%) = 46.0, VWF:RCo/VWF:Ag = 1.1, VWF:CB/VWF:Ag = 1.4, VWFpp/VWF:Ag = 9.2, FVIII:C/VWF:Ag = 1.2, RIPA (1.2 mg/ml, %) = 85.4

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      Gene: VWF

      Variant: c.3614G>A (p.Arg1205His)

      HGVS: NM_000552.4(VWF):c.3614G>A (p.Arg1205His)

      ClinVarID: 308; https://www.ncbi.nlm.nih.gov/clinvar/variation/308/

      CAID: NA

      gnomAD: absent

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalDominant DiseaseEntity:VWD1 Mutation:Missense Zygosity:Heterozygous ClinVarID:308 inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/28536718/
  3. www.e-enm.org www.e-enm.org
    Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population
    1
    1. ClingenBaseline 25 Oct 2026
      8 M/34 PGL VHL 1 c.308C>T (p.Pro103Leu) Post-NGS Targeted NGS LP Pancreas 4.2 Metastatic No Incidental Silent

      PatientID: 28

      KindredID: 28

      Case: M, 34Y0M, Korean

      DiseaseAssertion: Paraganglioma

      FamilyInfo: No information provided.

      CasePresentingHPOs: HP:0002668 (paraganglioma)

      CaseHPOFreeText: The patient presented with paraganglioma (see table 3).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, NF1, MAX, SDHA/SDHAF2/SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P103L (c.308C>T))

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 1488386, https://www.ncbi.nlm.nih.gov/clinvar/variation/1488386/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P103L (c.308C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition Ethnicity:Korean AssumedRefSeq:NM_000551.3 ClinVarID:Yes ClinVarID:1488386 DiseaseEntity:paraganglioma AgeOfPresentation:paraganglioma:34 CivicName:P103L(c.308C>T) cDNAPosition:308 ProteinPosition:103 AminoAcidChange:PROtoLEU PreviousTesting:RET/NF1/MAX/SDHA/SDHAF2/SDHB/SDHC/SDHD NoFamilyInfo inferred_gene_hgnc:44 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    e-enm.org/journal/view.php