40 Matching Annotations
  1. Oct 2026
  2. journals.lww.com journals.lww.com
    A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture
    9
    1. ClingenBaseline 25 Oct 2026
      3.1 Description of the study population

      Patient4: IOPD Group, 12 days old

      CasePresentingHPOs:

      HPOsFreeText: LDH = 432 U/L, CK = 458 U/L, ALT = 37 U/L, AST = 80 U/L, Mann-Whitney Test = 3

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.3:c.872T>C

      CAID: CA401363854, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401363854

      gnomAD: n/a

      Variant2: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001240, https://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Individual CaseInfo Variant CA401363854 ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    2. ClingenBaseline 25 Oct 2026
      3.1 Description of the study population

      Patient2: IOPD Group, 10days old

      CasePresentingHPOs:

      HPOsFreeText: LDH = 516 U/L, CK = 385 U/L, ALT = 12 U/L, AST = 73 U/L, Mann-Whitney Test = 2

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001240, https://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Individual CaseInfo Variant ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    3. ClingenBaseline 25 Oct 2026
      3.1 Description of the study population

      Patient8: IOPD Group, 12days old

      CasePresentingHPOs:

      HPOsFreeText: LDH = 418 U/L, CK = 483 U/L, ALT = 44 U/L, AST = 93 U/L, Mann-Whitney Test = 2

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001240, https://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Individual CaseInfo Variant ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    4. ClingenBaseline 24 Oct 2026
      3.1 Description of the study population

      Patient6: IOPD Group, 13days old

      CasePresentingHPOs:

      HPOsFreeText: LDH = 767 U/L, CK = 709 U/L, ALT = 30 U/L, AST = 117 U/L, Mann-Whitney Test = 3

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001240, https://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Individual CaseInfo Variant ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    5. ClingenBaseline 23 Oct 2026
      3.1 Description of the study population

      Patient10: IOPD Group, 46days old

      CasePresentingHPOs:

      HPOsFreeText: LDH = 425 U/L, CK = 221 U/L, ALT = 41 U/L, AST = 61 U/L, Mann-Whitney Test = 2

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001240, https://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Individual CaseInfo Variant ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    6. ClingenBaseline 23 Oct 2026
      3.1 Description of the study population

      Patient7: IOPD Group, 10days old

      CasePresentingHPOs:

      HPOsFreeText: LDH = 431 U/L, CK = 237 U/L, ALT = 23 U/L, AST = 58 U/L, Mann-Whitney Test = 2

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001240, https://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Individual CaseInfo Variant ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    7. ClingenBaseline 22 Oct 2026
      3.1 Description of the study population

      Patient5: IOPD Group, 12days old

      CasePresentingHPOs:

      HPOsFreeText: LDH = 464 U/L, CK = 380 U/L, ALT = 58 U/L, AST = 100 U/L, Mann-Whitney Test = 2

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001240, https://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Individual CaseInfo Variant ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    8. ClingenBaseline 22 Oct 2026
      3.1 Description of the study population

      Patient3: IOPD Group, 11days old

      CasePresentingHPOs:

      HPOsFreeText: LDH = 664 U/L, CK = 809 U/L, ALT = 48 U/L, AST = 117 U/L, Mann-Whitney Test = 3

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001240, https://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Individual CaseInfo Variant ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    9. ClingenBaseline 22 Oct 2026
      3.1 Description of the study population

      Patient9: IOPD Group, 14days old

      CasePresentingHPOs:

      HPOsFreeText: LDH = 597 U/L, CK = 998 U/L, ALT = 43 U/L, AST = 102 U/L, Mann-Whitney Test = 3

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001240, https://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Individual CaseInfo Variant ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    URL

    journals.lww.com/md-journal/fulltext/2016/03150/a_laboratory_phenotype_genotype_correlation_of.30.aspx
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
    1
    1. ClingenBaseline 25 Oct 2026
      2

      Case#: Patient 2, Gender N/A, 1-2 months old at onset, Southeast Asian

      DiseaseAssertion: Pompe disease

      FamilyInfo: Patient has two previously deceased siblings with cardiomyopathy

      CasePresentingHPOs: HP:0002789, HP:0002240, HP:0005165, HP:0001639 (Tachypnea, Hepatomegaly, Shortened PR interval, Hypertrophic cardiomyopathy)

      CaseHPOFreeText: BVH, EF 30%

      CaseNotHPOs: N/A

      CaseNotHPOFreeText:N/A

      CasePreviousTesting: GAA activity in leukocytes was 0% of the normal control value

      PCR of all exons was performed and subsequently subjected to capillary Sanger sequencing in both directions

      Variant1: NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029

      CAID: CA116610

      gnomAD: Highes population MAF = 0.001729 (East Asian)

      Variant2: NM_000152.5(GAA):c.1933G>C (p.Asp645His)

      ClinVar:<br /> 189013

      CAID: CA274256

      gnomAD: Highest population MAF = 0.00005534 (East Asian)

      ParentalGenotype: Father was carrier of variant 1 c.1935C>A ( p.Asp645Glu

      Mother was carrier of the Variant 2 c.1933G>C (p.Asp645His

      PreviouslyPublished:

      CaseInfo Individual DiseaseEntity:PompeDisease Gene:GAA Zygosity:CompoundHeterozygous InheritancePattern:AutosomalRecessive ClinVarID:189013 CAid:CA274256 ClinVarID:4029 CAid:CA116610 FamilyInfo inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6737665/
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mass Spectrometry but not Fluorimetry Distinguishes Affected and Pseudodeficienies in Newborn Screening for Pompe Disease
    15
    1. ClingenBaseline 25 Oct 2026

      CaseLP-5: Male, Taiwan, Birth diagnosis

      HPOsFreeText: 4MU enzyme activity at 1.08, MS/MS ennzyme activity at 0.46

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.752C>T (p.Ser251Leu)

      ClinVar: 325781 https://www.ncbi.nlm.nih.gov/clinvar/variation/325781/

      gnomAD: East Asian 2.760e-3, Overall 3.540e-4 http://gnomad.broadinstitute.org/variant/17-78081415-C-T

      Variant2: NM_000152.4:c.761C>T (p.Ser254Leu)

      ClinVar: 325782 https://www.ncbi.nlm.nih.gov/clinvar/variation/325782/

      gnomAD: East Asian 2.759e-3, Overall 1.947e-4 http://gnomad.broadinstitute.org/variant/17-78081424-C-T

      Variant3: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant4: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      CaseAddInfo: Suspected Late Onset Pompe Disease, Nomenclature indicates Variants 1 and 2 are in cis and Variants 3 and 4 are also in cis

      Individual CaseInfo GenotypingMethod Variant ClinVarID:325781 ClinVarID:325782 ClinVarID:92467 ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    2. ClingenBaseline 24 Oct 2026

      CaseIP-1: Female, Taiwan, Birth diagnosis

      HPOsFreeText: 4MU enzyme activity at 0.45, GAA (MS/MS) enzyme activity at 0.01 umol/hr/L, Serum CK at 237 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.424_440del17 (p.Ser142Leufs*29)

      CAID: CA658795228 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.424_440del17

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant3: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      CaseAddInfo: Infantile Onset Pompe Disease, Nomenclature indicates Variant 2 and 3 are in cis

      Individual CaseInfo Variant GenotypingMethod CA658795228 ClinVarID:92467 ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    3. ClingenBaseline 24 Oct 2026

      CaseIP2-10: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.09 umol/hr/L, Serum CK at 483 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      CaseAddInfo: Infantile Onset Pompe Disease, Patient is homozygous for this variant

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    4. ClingenBaseline 23 Oct 2026

      CaseIP2-9: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.09 umol/hr/L, Serum CK at 483 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant3: NM_000152.4:c.2274dup (p.Gly759Argfs*?)

      CAID: CA658795280 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.2273_2274insC

      gnomAD: Not in gnomAD

      CaseAddInfo: Infantile Onset Pompe Disease, Nomenclature indicates that Variant 1 and 2 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4029 ClinVarID:92467 CA658795280 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    5. ClingenBaseline 23 Oct 2026

      CaseIP-4: Male, Taiwan, Birth diagnosis

      HPOsFreeText: 4MU enzyme activity at 0.45, MS/MS ennzyme activity at 0.09

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant in literature as c.2274insC, however investigation revealed it was primarily a duplication.

      Variant3: NM_000152.4:c.2274dup (p.Gly759Argfs*?)

      CAID: CA658795280 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.2273dupC

      gnomAD: Not in gnomAD

      CaseAddInfo: Infantile Onset Pompe Disease, Nomenclature indicates Variant 1 and 2 are in cis

      Individual CaseInfo GenotypingMethod Variant ClinVarID:92467 ClinVarID:4029 CA658795280 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    6. ClingenBaseline 23 Oct 2026

      CaseIP2-5: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.13 umol/hr/L, Serum CK at 443 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1396G>T (p.Val466Phe)

      CAID: CA401366509 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1396G%3ET

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      CaseAddInfo: Infantile Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod CA401366509 ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    7. ClingenBaseline 23 Oct 2026

      CaseIP-3: Female, Taiwan, Birth diagnosis

      HPOsFreeText: 4MU enzyme activity at 0.42, MS/MS ennzyme activity at 0.10

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      CaseAddInfo: Infantile Onset Pompe Disease, Nomenclature indicates Variant 1 and 2 are in cis and that the patient is homozygous for this allele

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    8. ClingenBaseline 23 Oct 2026

      CaseOPOPD-53: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.80 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele, 3 other people have this genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    9. ClingenBaseline 22 Oct 2026

      CaseLP2-11: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.46 umol/hr/L, Serum CK at 86 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.752C>T (p.Ser251Leu)

      ClinVar: 325781 https://www.ncbi.nlm.nih.gov/clinvar/variation/325781/

      gnomAD: East Asian 2.760e-3, Overall 3.540e-4 http://gnomad.broadinstitute.org/variant/17-78081415-C-T

      Variant2: NM_000152.4:c.761C>T (p.Ser254Leu)

      ClinVar: 325782 https://www.ncbi.nlm.nih.gov/clinvar/variation/325782/

      gnomAD: East Asian 2.759e-3, Overall 1.947e-4 http://gnomad.broadinstitute.org/variant/17-78081424-C-T

      Variant3: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant4: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: Late Onset Pompe Disease, Nomenclature indicates Variants 1 and 2 and Variants 3 and 4 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4029 ClinVarID:92467 ClinVarID:325781 ClinVarID:325782 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    10. ClingenBaseline 22 Oct 2026

      CaseOPTPD-6: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.50 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      CaseAddInfo: One Pompe Mutation allele and Two Pseudodeficency Mutation alleles, Nomenclature indicates patient is homozygous for Variant 1 and Variant 2 is in cis with one copy, 70 other patients have the same genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4029 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    11. ClingenBaseline 22 Oct 2026

      CaseIP2-2: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.09 umol/hr/L, Serum CK at 458 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.872T>C (p.Leu291Pro)

      CAID: CA401363854 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.872T%3EC

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant3: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: Infantile Onset Pompe Disease, Nomenclature indicates Variant 1 and 2 are in trans, also that Variant 3 is in cis with only one of them

      Individual CaseInfo Variant GenotypingMethod CA401363854 ClinVarID:4029 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    12. ClingenBaseline 21 Oct 2026

      CaseIP-2: Male, Taiwan, Birth diagnosis

      HPOsFreeText: 4MU enzyme activity at 0.43, MS/MS ennzyme activity at 0.13

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant in literature as c.1396C>T, however the reference has G there. Corrected for poossible typo.

      Variant1: NM_000152.4:c.1396G>T (p.Val466Phe)

      CAID: CA401366509 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1396G%3ET

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      CaseAddInfo: Infantile Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod CA401366509 ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    13. ClingenBaseline 21 Oct 2026

      CaseIP2-11: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.15 umol/hr/L, Serum CK at 662 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant3: NM_000152.4:c.2303C>T (p.Pro768Leu)

      CAID: CA401324900 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.2303C%3ET

      gnomAD: Not in gnomAD

      CaseAddInfo: Infantile Onset Pompe Disease, Nomenclature indicates that Variant 1 and 3 are in trans and that 2 is in cis with one of them

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4029 ClinVarID:92467 CA401324900 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    14. ClingenBaseline 21 Oct 2026

      CaseOPM-1: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.97 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation, Nomenclature indicates Variants 1 and 2 are in cis and the other allele is Wildtype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4029 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    15. ClingenBaseline 21 Oct 2026

      CaseIP2-6: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.02 umol/hr/L, Serum CK at 709 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: Infantile Onset Pompe Disease, Nomenclature indicates that Variant 1 and 2 are in cis and the patient is homozygous for this allele, 2 more patients also have the same genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4029 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5524447/
  5. www.sciencedirect.com www.sciencedirect.com
    Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease
    10
    1. ClingenBaseline 24 Oct 2026
      Supplement Table 1)

      Patient10: 6yo

      CasePresentingHPOs: HP:0001638

      HPOsFreeText: rhGAA dosage = 40 EOW, independent walker

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: homozygous variants, 34day old at ERT

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Individual CaseInfo Variant ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    2. ClingenBaseline 24 Oct 2026
      Supplement Table 1)

      Patient14: 3yo

      CasePresentingHPOs: HP:0001638

      HPOsFreeText: rhGAA dosage = 20 QW, independent walker

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: homozygous variants, 14days old at ERT start

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Individual CaseInfo Variant ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    3. ClingenBaseline 24 Oct 2026
      Supplement Table 1)

      Patient3: 4yo

      CasePresentingHPOs: HP:0001638

      HPOsFreeText: rhGAA dosage = 40 EOW, independent walker

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 14days old at ERT start, stopped albuterol during 4th month of trial

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.3:c.1197_1208del

      CAID: CA658795246, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA658795246

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:4029 CA658795246 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    4. ClingenBaseline 23 Oct 2026
      Supplement Table 1)

      Patient2: 8yo

      CasePresentingHPOs: HP:0001638

      HPOsFreeText: rhGAA dosage = 20QW, independent walker

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 29days old at ERT start

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.3:c.2842_2843insT

      CAID: CA913184740, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913184740

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:4029 CA913184740 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    5. ClingenBaseline 22 Oct 2026
      Supplement Table 1)

      Patient4: 3yo

      CasePresentingHPOs: HP:0001638

      HPOsFreeText: rhGAA dosage = 20 QW, independent walker

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: homozygous variant, 6days old at ERT start

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Individual CaseInfo Variant ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    6. ClingenBaseline 22 Oct 2026
      Supplement Table 1)

      Patient13: 6yo

      CasePresentingHPOs:

      HPOsFreeText: rhGAA dosage = 20 EOW, independent walker

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 37mo at ERT start

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.3:c.1781G>A

      CAID: CA8815477, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA8815477

      gnomAD: 1.729e-05, http://exac.broadinstitute.org/variant/17-78086403-G-A

      Individual CaseInfo Variant ClinVarID:4029 CA8815477 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    7. ClingenBaseline 22 Oct 2026
      Supplement Table 1)

      Patient5: 12yo

      CasePresentingHPOs: HP:0001638

      HPOsFreeText: rhGAA dosage = 20 EOW, ventilator dependent

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 6mo at ERT start

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.3:c.2023_2025del

      CAID: CA274244, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA274244

      gnomAD: 2.105e-05, http://exac.broadinstitute.org/variant/17-78086806-CACA-C

      Individual CaseInfo Variant ClinVarID:4029 CA274244 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    8. ClingenBaseline 22 Oct 2026
      Supplement Table 1)

      Patient9: 2yo

      CasePresentingHPOs: HP:0001638

      HPOsFreeText: rhGAA dosage = 40 EOW, independent walker

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 14days old at ERT start

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4(GAA):c.2815_2816delGT (p.Val939Leufs)

      ClinVar: 371481, https://www.ncbi.nlm.nih.gov/clinvar/variation/371481/

      gnomAD: 1.653e-05, http://exac.broadinstitute.org/variant/17-78093082-CTG-C

      Individual CaseInfo Variant ClinVarID:4029 ClinVarID:371481 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    9. ClingenBaseline 22 Oct 2026
      Supplement Table 1)

      Patient8: 2yo

      CasePresentingHPOs: HP:0001638

      HPOsFreeText: rhGAA dosage = 40 EOW, independent walker

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 16 days old at ERT start

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Variant2:NM_000152.3:c.1197_1208del

      CAID: CA658795246, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA658795246

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:4029 CA658795246 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    10. ClingenBaseline 21 Oct 2026
      Supplement Table 1)

      Patient7: 6yo

      CasePresentingHPOs: HP:0001638

      HPOsFreeText: rhGAA dosage = 20 QW, independent walker

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 12days old at ERT start

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.3:c.1062C>G

      CAID: CA401364789, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401364789

      gnomAD: n/a

      Variant3: NM_000152.4(GAA):c.1286A>G (p.Gln429Arg)

      ClinVar: 284497, https://www.ncbi.nlm.nih.gov/clinvar/variation/284497/

      gnomAD: 0.0007528, http://gnomad.broadinstitute.org/variant/17-78082587-A-G

      Individual CaseInfo Variant ClinVarID:4029 CA401364789 ClinVarID:284497 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    sciencedirect.com/science/article/pii/S2214426917300423
  6. www.liebertpub.com www.liebertpub.com
    Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations | Genetic Testing and Molecular Biomarkers
    4
    1. ClingenBaseline 24 Oct 2026
      PD18

      Patient18: Male, Northern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4(GAA):c.796C>T (p.Pro266Ser)

      ClinVar: 556117, https://www.ncbi.nlm.nih.gov/clinvar/variation/556117/

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:4029 ClinVarID:556117 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    2. ClingenBaseline 21 Oct 2026
      PD17

      Patient17: Female, Southern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4(GAA):c.2815_2816delGT (p.Val939Leufs)

      ClinVar: 371481, https://www.ncbi.nlm.nih.gov/clinvar/variation/371481/

      gnomAD: 1.653e-05, http://exac.broadinstitute.org/variant/17-78093082-CTG-C

      Individual CaseInfo Variant ClinVarID:4029 ClinVarID:371481 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    3. ClingenBaseline 21 Oct 2026
      PD19

      Patient19: Male, Southern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4(GAA):c.2815_2816delGT (p.Val939Leufs)

      ClinVar: 371481, https://www.ncbi.nlm.nih.gov/clinvar/variation/371481/

      gnomAD: 1.653e-05, http://exac.broadinstitute.org/variant/17-78093082-CTG-C

      Individual CaseInfo Variant ClinVarID:4029 ClinVarID:371481 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    4. ClingenBaseline 21 Oct 2026
      PD11

      Patient11: Male, Southern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD, survived beyond 2yo, left ventricular mass index and left ventricular posterior wall thickness decreased during ERT. Able to raise head, sit without support, stand, walk alone

      CaseNotHPOs: no significant respiratory problems during ERT

      NotHPOsFreeText:

      CaseAddInfo: homozygous, only patient to receive ERT treatment (rhGAA) every 2wks beginning at 5mo of age. ERT lasted for 90wks.

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Individual CaseInfo Variant ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    liebertpub.com/doi/full/10.1089/gtmb.2016.0424
  7. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
    1
    1. ClingenBaseline 23 Oct 2026
      c.2815_2816delGT(p.Val939fs*78)

      Case43

      HPOsFreeText: See Group Phenotypes

      CasePreviousTesting: Sanger sequencing

      CaseMethod1: Sanger sequencing and PCR Amplification

      CaseMethod2: Whole Exome Sequencing (WES)

      CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

      Variant1: NM_000152.4:c.2815_2816delGT (p.Val939fs*78)

      ClinVar: 371481 https://www.ncbi.nlm.nih.gov/clinvar/variation/371481/

      gnomAD: East Asian 1.631e-4, Overall 1.194e-5 http://gnomad.broadinstitute.org/variant/17-78093082-CTG-C

      Variant2: NM_000152.4:c.1935C>A (p.Asp645Glu)

      CAID: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      CaseAddInfo: Infantile Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4029 ClinVarID:371481 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5907499/