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  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Case Report: Intestinal Nodular Lymphoid Hyperplasia as First Manifestation of Activated PI3Kδ Syndrome Due to a Novel PIK3CD Variant
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC8528001/
  3. link.springer.com link.springer.com
    Germline mutations in the von Hippel–Lindau disease (VHL) gene in mainland Chinese families
    1
    1. Vibhor 09 Jul 2026
      4 partial deletions

      GroupID/ KindredID: 22

      Case: Age unknown, Sex unknown, Chinese

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: No family history. Genetic testing of their parents confirmed a de novo mutation.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002666; HP:0005584; HP:0009711; HP:0001732 (pheochromocytoma; renal cell carcinoma; retinal capillary hemangioma; pancreatic lesion)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Exon 1 deletion

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: exon_loss_variant

      CivicName: Exon 1 Deletion

      MultipleGeneVariants: N/A

      Mutation:Germline DiseaseEntity:hemangioblastoma InheritancePattern:DeNovoAssertion deNovoConfirmed RefSeq:AF010238.1 CivicName:Exon1Deletion MutationType:exon_loss_variant NonFamilial Ethnicity:Chinese CAID:N/A ClinVarID:N/A ClinGen VHL hgnc_imputed:assumed_refseq_tag
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    link.springer.com/article/10.1007/s00432-008-0399-x
  4. Aug 2024
  5. drive.google.com drive.google.com
    Oppliger-Leibundgut_et_al_1997_HuMu_9.409-11.pdf
    1
    1. stephaniemelby 04 Aug 2024

      Case: Patient Proband SS, Female, Caucasian

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: De novo inheritance, no family history of disease

      CasePresentingHPOs: Hyperammonemia (HP:0001987), oroticaciduria (HP:0003218), Childhood onset (HP:0011463)

      CaseHPOFreeText:

      CaseNOTHPOs: Positive allopurinol test

      CaseNOTHPOFreeText:

      CasePreviousTesting: Genomic DNA isolated from peripheral blood leukocytes or cultured skin fibroblasts. Amplification by PCR used. SSCP analysis performed. Sequencing of both free and immobilized single strands carried out by dideoxy chain termination method.

      SupplementalData: Table 1: Mutations in the Ornithine Transcarbamylase Gene of 17 Females

      Variant: NM_000531.6:c.77+1G>A

      ClinVarID: 97313

      CAID: CA224773

      gnomAD:

      c.77+1G>A ClinVarID: 97313 CAID: CA224773 PMID: 9143919 Gene: OTC InheritancePattern:DeNovoAssertion
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    drive.google.com/file/d/1xU2k_D_zGfeKcEIH-jvkTmi6_cqpTu8R/view