6 Matching Annotations
  1. Last 7 days
  2. watermark.silverchair.com watermark.silverchair.com
    3-6-861.pdf
    2
    1. ClingenBaseline 21 Oct 2026

      Case#: Three patients are from The Netherlands

      DiseaseAssertion: MPSI-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: c.208C>T (p.Q70X)

      Variant2ClinVarID: 11909

      Variant2CAID: CA204563

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      ClinVarID:222995 CAID:CA356986 ClinVarID:11909 CAID:CA204563 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 21 Oct 2026
      3

      Case#: Three patients are from The Netherlands

      DiseaseAssertion: MPSI-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: c.208C>T (p.Q70X)

      Variant2ClinVarID: 11909

      Variant2CAID: CA204563

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11909 CAID:CA204563 CAID:CA356986 ClinVarID:222995 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    watermark.silverchair.com/3-6-861.pdf
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life
    1
    1. ClingenBaseline 21 Oct 2026
      10

      Case#: Patient 10 (see Table 2), Gestational age not available

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Upper respiratory tract involvement

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1205G>A (p.W402X)

      Variant1ClinVarID: 11908

      Variant1CAID: CA220498

      Variant2: c.653T>C (p.L218P)

      Variant2ClinVarID: 222995

      Variant2CAID: CA:356986

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 ClinVarID:11908 CAID:CA220498 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC3710214/
  4. academic.oup.com academic.oup.com
    Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients
    3
    1. ClingenBaseline 21 Oct 2026
      1

      Case#: Patient is from The Netherlands

      DiseaseAssertion: MPSI-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: c.1205G>A (p.W402X)

      Variant2ClinVarID: 11908

      Variant2CAID: CA220498

      AdditionalVariants: G387+6C>T on same allele

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 CAID:CA220498 ClinVarID:11908 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 21 Oct 2026
      3

      Case#: Three patients are from The Netherlands

      DiseaseAssertion: MPSI-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: c.208C>T (p.Q70X)

      Variant2ClinVarID: 11909

      Variant2CAID: CA204563

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11909 CAID:CA204563 CAID:CA356986 ClinVarID:222995 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    3. ClingenBaseline 21 Oct 2026
      1

      Case#: Patient is from The Netherlands

      DiseaseAssertion: MPSI-H

      FamilyInfo: Patient has consanguinity between parents.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: c.653T>C (p.L218P)

      Variant2ClinVarID: 222995

      Variant2CAID: CA356986

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

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    URL

    academic.oup.com/hmg/article-abstract/3/6/861/594316