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Recognized gene
TRIM32
Normalized c.HGVS
c.1012G>A, c.1031G>A, c.1124T>G, c.1162G>A, c.1168C>T and 44 more
Normalized p.HGVS
Not available
Matching records
107
PM3-positive records
15
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 |
|---|---|---|---|---|---|---|
| TRIM32 |
NM_012210.4:c.1786C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40038764
Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.
Acta neuropathologica communications, 2025
|
Main article | |
| TRIM32 |
NM_012210.4:c.1786C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
40038764
Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.
Acta neuropathologica communications, 2025
|
Main article | |
| TRIM32 |
NM_012210.4:c.1855C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40038764
Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.
Acta neuropathologica communications, 2025
|
Main article | |
| TRIM32 |
NM_012210.4:c.1786C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
38304327
Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.
Frontiers in neurology, 2024
|
Main article | |
| TRIM32 |
NM_012210.4:c.1786C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.1181G>A; Arg394His
context: Compound heterozygous candidate
|
38304327
Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.
Frontiers in neurology, 2024
|
Main article | |
| TRIM32 |
NM_012210.4:c.1855C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38304327
Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.
Frontiers in neurology, 2024
|
Main article | |
| TRIM32 |
NM_012210.4:c.488T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38304327
Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.
Frontiers in neurology, 2024
|
Main article | |
| TRIM32 |
NM_012210.4:c.650A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38304327
Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.
Frontiers in neurology, 2024
|
Main article | |
| TRIM32 |
NM_012210.4:c.1855C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
37626915
Tripartite Motif-Containing Protein 32 (TRIM32): What Does It Do for Skeletal Muscle?
Cells, 2023
|
Main article | |
| TRIM32 |
NM_012210.4:c.650A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with 1701_1703del; F568del
context: Compound heterozygous candidate
|
37626915
Tripartite Motif-Containing Protein 32 (TRIM32): What Does It Do for Skeletal Muscle?
Cells, 2023
|
Main article | |
| TRIM32 |
NM_012210.4:c.1855C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
34439639
Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis.
Brain sciences, 2021
|
Main article | |
| TRIM32 |
NM_012210.4:c.650A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1701_1703del; p.F568del
context: Compound heterozygous candidate
|
33802079
TRIM32: A Multifunctional Protein Involved in Muscle Homeostasis, Glucose Metabolism, and Tumorigenesis.
Biomolecules, 2021
|
Main article | |
| TRIM32 |
NM_012210.4:c.650A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.1701_1703del; p.F568del
context: Confirmed in trans
|
30823891
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.
Acta neuropathologica communications, 2019
|
Main article | |
| TRIM32 |
NM_012210.4:c.712C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
29921608
Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population.
Journal of neurology, neurosurgery, and psychiatry, 2019
|
Supplementary material | |
| TRIM32 |
NM_012210.4:c.1361T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
20142850
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.
Molecular vision, 2010
|
Main article | |
| TRIM32 |
NM_012210.4:c.1198C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
35835773
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
NPJ genomic medicine, 2022
|
Supplementary material | |
| TRIM32 |
NM_012210.4:c.1855C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
40329417
Correction: Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.
Acta neuropathologica communications, 2025
|
Main article | |
| TRIM32 |
NM_012210.4:c.134G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
37810530
Prevalence of genetic causes of obesity in clinical practice.
Obesity science & practice, 2023
|
Main article | |
| TRIM32 |
NM_012210.4:c.1061A>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
37622728
Region-specific reversal of epidermal planar polarity in the rosette fancy mouse.
Development (Cambridge, England), 2023
|
Main article | |
| TRIM32 |
NM_012210.4:c.1787G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
36991000
Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.
Nature communications, 2023
|
Main article and supplement | |