Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
GAA
Normalized c.HGVS
c.-32-13T>G, c.1007T>C, c.1012G>T, c.1019A>G, c.1048G>A and 44 more
Normalized p.HGVS
p.(Arg375Cys), p.(Arg385Cys), p.(Arg411Trp), p.(Arg422Trp), p.(Arg436Gln) and 41 more
Matching records
1410
PM3-positive records
71
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.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
Needs review
|
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
Needs review
|
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.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
Needs review
|
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 | |
| GAA |
NM_000152.5:c.1310G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.547-39T>G; c.547-67C>G; L641V; +1 more
context: Compound heterozygous candidate
|
39273088
Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study.
International journal of molecular sciences, 2024
|
Main article | |
| GAA |
NM_000152.5:c.2509C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.574G>A; p.E192K
context: Compound heterozygous candidate
|
39213226
Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports.
Medicine, 2024
|
Main article | |
| GAA |
NM_000152.5:c.574G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2509C>T; R837C
context: Compound heterozygous candidate
|
39213226
Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports.
Medicine, 2024
|
Main article | |