Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
GAA
Normalized c.HGVS
c.-32-13T>G, c.1133A>G, c.11G>A, c.1274C>T, c.131G>T and 44 more
Normalized p.HGVS
p.(Ala17Thr), p.(Ala187Gly), p.(Ala237Glu), p.(Ala237Val), p.(Ala24Thr) and 43 more
Matching records
1445
PM3-positive records
102
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| GAA |
NM_000152.5:c.1123C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.2005_2010del; p.Pro669_Phe670del; del
context: Confirmed in trans
|
40981304
Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population.
International journal of neonatal screening, 2025
|
Main article | |
| GAA |
NM_000152.5:c.1123C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.−32-13T >G; c.−32-13T>G
context: Confirmed in trans
|
36246652
Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.
Frontiers in genetics, 2022
|
Main article | |
| GAA |
NM_000152.5:c.2237G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
41918960
Management of life-threatening anaphylaxis to enzyme replacement therapy in an infant with Pompe disease: a case report and literature review.
Frontiers in allergy, 2026
|
Main article | |
| GAA |
NM_000152.5:c.1123C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2005_2010del; novel deletion
context: Compound heterozygous candidate
|
41783848
Comprehensive review of recent advances in Pompe disease: pathogenesis, management, and future directions.
Frontiers in neurology, 2026
|
Main article | |
| GAA |
NM_000152.5:c.1069G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.Arg287Gln
context: Compound heterozygous candidate
|
41554119
GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.
Journal of inherited metabolic disease, 2026
|
Main article | |
| GAA |
NM_000152.5:c.510C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40626179
Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction.
Frontiers in genetics, 2025
|
Supplementary material | |
| GAA |
NM_000152.5:c.1194+3G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1478C>T; p.P493L
context: Compound heterozygous candidate
|
40136631
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
International journal of neonatal screening, 2025
|
Main article | |
| GAA |
NM_000152.5:c.1378G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1552-3C>G
context: Compound heterozygous candidate
|
40136631
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
International journal of neonatal screening, 2025
|
Main article | |
| GAA |
NM_000152.5:c.1888+5G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.-32-13T>G; c.1655T>C; c.2560C>T; +2 more
context: Compound heterozygous candidate
|
40136631
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
International journal of neonatal screening, 2025
|
Main article | |
| GAA |
NM_000152.5:c.2467A>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.671G>A; p.Arg224Gln
context: Compound heterozygous candidate
|
40136631
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
International journal of neonatal screening, 2025
|
Main article | |
| GAA |
NM_000152.5:c.266G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1655T>C; p.Leu552Pro
context: Compound heterozygous candidate
|
40136631
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
International journal of neonatal screening, 2025
|
Main article | |
| GAA |
NM_000152.5:c.1136C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1139C>T; c.1174A>C; c.1559A>T; +7 more
context: Compound heterozygous candidate
|
40225932
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Human mutation, 2024
|
Main article | |
| GAA |
NM_000152.5:c.2105G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2105G>A; c.2105G>T; p.R702H
context: Compound heterozygous candidate
|
40225932
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Human mutation, 2024
|
Main article | |
| GAA |
NM_000152.5:c.49G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
40225932
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Human mutation, 2024
|
Main article | |
| GAA |
NM_000152.5:c.510C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.-32-13T>G
context: Compound heterozygous candidate
|
40225932
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Human mutation, 2024
|
Main article | |
| GAA |
NM_000152.5:c.631G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.406T>A; c.576G>T; c.716T>C; +7 more
context: Compound heterozygous candidate
|
40225932
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Human mutation, 2024
|
Main article | |
| GAA |
NM_000152.5:c.868A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.869A>T; p.N290D
context: Compound heterozygous candidate
|
40225932
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Human mutation, 2024
|
Main article | |
| GAA |
NM_000152.5:c.576G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
39731073
Sensory neuropathy in patients with Pompe disease: a case series in Iran.
BMC musculoskeletal disorders, 2024
|
Main article | |
| GAA |
NM_000152.5:c.1780C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1799G>C
context: Compound heterozygous candidate
|
39677172
Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.
Cureus, 2024
|
Main article | |
| GAA |
NM_000152.5:c.631G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1555A>G; c.1594G>A; Gly532Ser; +1 more
context: Compound heterozygous candidate
|
39375771
Significance of early diagnosis and treatment of adult late-onset Pompe disease on the effectiveness of enzyme replacement therapy in improving muscle strength and respiratory function: a case report.
Journal of medical case reports, 2024
|
Main article | |