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Recognized gene
GBA1
Normalized c.HGVS
c.1043C>G, c.1043C>T, c.1103G>A, c.1200G>A, c.1279G>A and 14 more
Normalized p.HGVS
p.(=), p.(Ala348Gly), p.(Ala348Val), p.(Arg301His), p.(Arg368His) and 14 more
Matching records
127
PM3-positive records
16
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 |
|---|---|---|---|---|---|---|
| GBA1 |
NM_000157.4:c.1279G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
41890995
The GBA1 p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-Analysis.
medRxiv : the preprint server for health sciences, 2026
|
Main article | |
| GBA1 |
NM_000157.4:c.1279G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1223C>T; Thr369Met; Thr408Met
context: Compound heterozygous candidate
|
40671875
GBA genotype-Parkinson's phenotype correlation in a cohort of 252 Italian patients from the Tuscany region.
Clinical parkinsonism & related disorders, 2025
|
Main article | |
| GBA1 |
NM_000157.4:c.1495G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1226A > G; p.(Asn409Ser); p.N370S
context: Compound heterozygous candidate
|
40542290
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
|
Main article | |
| GBA1 |
NM_000157.4:c.1495G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1226A>G; p.N409S
context: Compound heterozygous candidate
|
40137425
Clinical Outcomes and Genetic Mutations in Turkish Patients with Type 1 Gaucher Disease: Insights from a Single-Center Study.
Journal of personalized medicine, 2025
|
Main article | |
| GBA1 |
NM_000157.4:c.535G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1093G>A; E326K; Glu365Lys
context: Compound heterozygous candidate
|
36598340
Classification of GBA1 Variants in Parkinson's Disease: The GBA1-PD Browser.
Movement disorders : official journal of the Movement Disorder Society, 2023
|
Main article | |
| GBA1 |
NM_000157.4:c.535G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1093G > A; E326K; Glu365Lys
context: Compound heterozygous candidate
|
33420335
False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance.
Scientific reports, 2021
|
Main article | |
| GBA1 |
NM_000157.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.Asn409Ser; p.Leu483Pro
context: Compound heterozygous candidate
|
33473340
Genetic characterization of the Albanian Gaucher disease patient population.
JIMD reports, 2020
|
Supplementary material | |
| GBA1 |
NM_000157.4:c.902G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
32714263
Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland.
Frontiers in neurology, 2020
|
Main article | |
| GBA1 |
NM_000157.4:c.535G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1093G > A; c.1226A > G; c.1604G > A; +6 more
context: Compound heterozygous candidate
|
32618053
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.
Movement disorders : official journal of the Movement Disorder Society, 2020
|
Main article | |
| GBA1 |
NM_000157.4:c.637C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.1226A > G; N370S; p.N409S
context: Compound heterozygous candidate
|
32547927
Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.
Molecular genetics and metabolism reports, 2020
|
Main article | |
| GBA1 |
NM_000157.4:c.535G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1093G>A; c.1223C>T; p.Glu365Lys; +1 more
context: Compound heterozygous candidate
|
29948939
Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson's Disease and Dementia with Lewy Bodies.
Molecular neurobiology, 2019
|
Supplementary material | |
| GBA1 |
NM_000157.4:c.1200G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with G202R; G241R
context: Compound heterozygous candidate
|
29980418
Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.
Molecular genetics and metabolism, 2018
|
Main article | |
| GBA1 |
NM_000157.4:c.1495G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
29124790
Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.
Movement disorders : official journal of the Movement Disorder Society, 2017
|
Main article | |
| GBA1 |
NM_000157.4:c.1474G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
26296077
GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society, 2016
|
Main article | |
| GBA1 |
NM_000157.4:c.637C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with N370S
context: Compound heterozygous candidate
|
23430543
Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.
JIMD reports, 2013
|
Main article | |
| GBA1 |
NM_000157.4:c.535G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.10936G>A; c.586A>C; p.Glu326Lys; +1 more
context: Compound heterozygous candidate
|
21796727
A mutation in SCARB2 is a modifier in Gaucher disease.
Human mutation, 2011
|
Main article | |
| GBA1 |
NM_000157.4:c.1279G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41519835
Metabolomic breath landscape analysis unravels lipid biomarker candidates in patients with genetic and idiopathic Parkinson's disease.
NPJ Parkinson's disease, 2026
|
Main article | |
| GBA1 |
NM_000157.4:c.535G>C
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41519835
Metabolomic breath landscape analysis unravels lipid biomarker candidates in patients with genetic and idiopathic Parkinson's disease.
NPJ Parkinson's disease, 2026
|
Main article | |
| GBA1 |
NM_000157.4:c.535G>C
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41413081
The genetic architecture of Parkinson's disease on the Island of Crete.
NPJ Parkinson's disease, 2025
|
Main article | |
| GBA1 |
NM_000157.4:c.1279G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
40506446
Penetrance of Parkinson's disease in GBA1 carriers depends on variant severity and polygenic background.
NPJ Parkinson's disease, 2025
|
Main article | |