5 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants
    5
    1. ClingenBaseline 22 Oct 2026
      4

      Case#: Patient 4

      DiseaseAssertion: Pompe Disease

      FamilyInfo: None given

      CasePresentingHPOs: None

      CaseHPOFreeText: None

      CaseNotHPOs: None

      CaseNotHPOFreeText: None

      CasePreviousTesting: Single gene sequencing with Ion Torrent Persional Genome Machine

      Glucosidase activity: 0.0 nmol 5MU/hr/mL

      Variant 1: NM_000152.5:c.596A>G

      Variant 1 ClinVarID: 92486

      Variant 1 CAid: CA145785

      Variant 2: NM_000152.5:c.668G>A

      Variant 2 ClinVarID: 92488

      Variant 2 CAid: CA145791

      ParentalGenotype: Not provided

      ClinVarID:92486 CAid:CA145785 CaseInfo CAid:145791 ClinVarID:92488 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    2. ClingenBaseline 22 Oct 2026
      8

      Case#: Patient 8

      DiseaseAssertion: Pompe Disease

      FamilyInfo: None given

      CasePresentingHPOs: None

      CaseHPOFreeText: None

      CaseNotHPOs: None

      CaseNotHPOFreeText: None

      CasePreviousTesting: Single gene sequencing with Ion Torrent Persional Genome Machine

      Glucosidase activity: 0.05 nmol 5MU/hr/mL

      Variant 1: NM_000152.5:c.596A>G

      Variant 1 ClinVarID: 92486

      Variant 1 CAid: CA145785

      Variant 2: NM_000152.5:c.472A>G

      Variant 2 ClinVarID:

      Variant 2 CAid: CA401361595

      Variant 3: NM_000152.5:c.668G>A

      Variant 3 ClinVarID: 92488

      Variant 3 CAid: CA145791

      Variant 4: NM_000152.5:c.503G>T

      Variant 4 ClinVarID:

      Variant 4 CAid: CA8814883

      ParentalGenotype: Not provided

      ClinVarID:92486 CAid:CA145785 CAid:CA401361595 ClinVarID:92488 CAid:CA145791 CAid:CA8814883 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    3. ClingenBaseline 22 Oct 2026
      7

      Case#: Patient 7

      DiseaseAssertion: Pompe Disease

      FamilyInfo: None given

      CasePresentingHPOs: None

      CaseHPOFreeText: None

      CaseNotHPOs: None

      CaseNotHPOFreeText: None

      CasePreviousTesting: Single gene sequencing with Ion Torrent Persional Genome Machine

      Glucosidase activity: 0.05 nmol 5MU/hr/mL

      Variant 1: NM_000152.5:c.2560C>T

      Variant 1 ClinVarID: 4034

      Variant 1 CAid: CA340130

      Variant 2: NM_000152.5:c.596A>G

      Variant 2 ClinVarID: 92486

      Variant 2 CAid: CA145785

      Variant 3: NM_000152.5:c.668G>A

      Variant 3 ClinVarID: 92488

      Variant 3 CAid: CA145791

      ParentalGenotype: Not provided

      CAid:CA145791 ClinVarID:92488 CAid:CA145785 ClinVarID:92486 ClinVarID:4034 CAid:CA340130 CaseInfo inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    4. ClingenBaseline 21 Oct 2026
      2

      Case#: Patient 2

      DiseaseAssertion: Pompe Disease

      FamilyInfo: None given

      CasePresentingHPOs: None

      CaseHPOFreeText: None

      CaseNotHPOs: None

      CaseNotHPOFreeText: None

      CasePreviousTesting: Single gene sequencing with Ion Torrent Persional Genome Machine

      Glucosidase activity: 0.0 nmol 5MU/hr/mL

      Variant 1: NM_000152.5:c.596A>G

      Variant 1 ClinVarID: 92486

      Variant 1 CAid: CA145785

      Variant 2: NM_000152.5:c.668G>A

      Variant 2 ClinVarID: 92488

      Variant 2 CAid: CA145791

      ParentalGenotype: Not provided

      CaseInfo ClinVarID:92486 CAid:145785 ClinVarID:92488 CAid:CA145791 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    5. ClingenBaseline 21 Oct 2026
      3

      Case#: Patient 3

      DiseaseAssertion: Pompe Disease

      FamilyInfo: None given

      CasePresentingHPOs: None

      CaseHPOFreeText: None

      CaseNotHPOs: None

      CaseNotHPOFreeText: None

      CasePreviousTesting: Single gene sequencing with Ion Torrent Persional Genome Machine

      Glucosidase activity: 0.0 nmol 5MU/hr/mL

      Variant 1: NM_000152.5:c.596A>G

      Variant 1 ClinVarID: 92486

      Variant 1 CAid: CA145785

      Variant 2: NM_000152.5:c.668G>A

      Variant 2 ClinVarID: 92488

      Variant 2 CAid: CA145791

      ParentalGenotype: Not provided

      ClinVarID:92486 CAid:CA145785 CaseInfo CAid:CA145791 ClinVarID:92488 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC8100401/