2 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan
    1
    1. ClingenBaseline 23 Oct 2026
      38

      Patient38: Male, 20 years report, 2 year onset

      CasePresentingHPOs: HP:0001324, HP:0002098, HP:0002527 (Muscle weakness, Respiratory distress, Falls)

      HPOsFreeText: GAA activity 2.7% from leukocyte, Wheelchair needed, Respiratory Assistance needed

      CaseNotHPOs: HP:0001640, HP:0002240 (Cardiomegaly, Hepatomegaly)

      NotHPOsFreeText: N/A

      CaseAddInfo: LOPD

      Individual CaseInfo ClinVarID:495664 ClinVarID:550825 inferred_gene_hgnc:7765 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5671405/
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients
    1
    1. ClingenBaseline 22 Oct 2026
      35 (45%) had missense variants,

      PatientID: 3

      KindredID: 3

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0006770; HP:0030405; HP:0009711; HP:0100634; HP:0030421 (clear cell renal cell carcinoma, pancreatic neuroendocrine neoplasm, retinal capillary hemangioma, Neuroendocrine neoplasm, Epididymal neoplasm)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes; see table S1 for VHL subject genetic and manifestation information.

      Variant: p.D92V (c.275A>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 184664 https://www.ncbi.nlm.nih.gov/clinvar/variation/184664/

      CAID: N/A

      gnomAD: 0.000004482 https://gnomad.broadinstitute.org/variant/3-10183806-A-T

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: D92V (c.275A>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma ProteinPosition:92 cDNAposition:275 CivicName:D92V(c.275A>T) AminoAcidChange:ASPtoVAL MutationType:missense_variant;transversion ClinVarID:184664 ClinVarID:Yes NoFamilyInfo Mutation:Germline SupplementalData RefSeq:NM_000551.3 inferred_gene_hgnc:7765 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1111/cge.13613