Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
AARS1, ABCA3, ABCA4, ABCB4, ABCG5 and 21 more
Normalized c.HGVS
c.1055C>T, c.1066A>G, c.11068G>A, c.1124T>G, c.1285G>A and 45 more
Normalized p.HGVS
p.(Ala1699Val), p.(Ala2503Ser), p.(Ala286Val), p.(Ala429Thr), p.(Arg1280Gln) and 44 more
Matching records
557
PM3-positive records
0
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 |
|---|---|---|---|---|---|---|
| TRIM37 |
NM_015294.6:c.2776G>T
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
41907767
Novel Missense Variants in TRIM37 Associated with Mulibrey Nanism and Complex Congenital Heart Disease.
Cardiology and cardiovascular medicine, 2026
|
Main article | |
| CDHR1 |
NM_033100.4:c.2027T>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
41728201
CDHR1 variants in a Japanese family with inherited retinal dystrophy and intrafamilial phenotypic variability.
Frontiers in ophthalmology, 2026
|
Main article | |
| PMP22 |
NM_000304.4:c.475C>T
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
41030121
Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights.
Annals of clinical and translational neurology, 2026
|
Main article | |
| HJV |
NM_213653.4:c.863G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
39632350
Iron overload in hereditary spherocytosis: Are genetic factors the cause?
British journal of haematology, 2026
|
Main article | |
| PINK1 |
NM_032409.3:c.454C>T
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
41413081
The genetic architecture of Parkinson's disease on the Island of Crete.
NPJ Parkinson's disease, 2025
|
Main article | |
| CDH23 |
NM_022124.6:c.3179G>C
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
40760574
Case report of paroxysmal dystonia in a child with KBG syndrome: Expansion of the phenotype and utility of whole exome sequencing.
Medicine, 2025
|
Main article | |
| ERCC4 |
NM_005236.3:c.1633G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
40627234
High burden of variants of uncertain significance in early-onset colorectal cancer among indigenous African patients: a call for global research equity in cancer genetics.
Molecular biology reports, 2025
|
Main article and supplement | |
| KCNQ1 |
NM_000218.3:c.1520G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
40617375
Sudden cardiac death in young: A cardiac-focused autopsy and molecular study to identify the cause.
Indian heart journal, 2025
|
Main article | |
| CEP290 |
NM_025114.4:c.6628C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
40565534
Investigating the Role of B9D1 in Meckel-Gruber Syndrome: A Case Report and Comprehensive Literature Review.
Genes, 2025
|
Main article | |
| IKBKB |
NM_001556.3:c.230G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
40529371
Dual variants of uncertain significance in a case of hyper-IgM syndrome: implications for diagnosis and management.
Frontiers in immunology, 2025
|
Main article | |
| ABCG5 |
NM_022436.3:c.1285G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
40517278
Correlation between clinical classification and genetic analysis of familial hypercholesterolemia in premature coronary artery disease in a cohort of Egyptian patients.
Human genomics, 2025
|
Main article and supplement | |
| CDH23 |
NM_022124.6:c.6929C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
40486680
Outcomes of cochlear implants in patients with PCDH15 mutations: a clinical study.
Frontiers in genetics, 2025
|
Main article and supplement | |
| POGLUT1 |
NM_152305.3:c.983T>G
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
40469237
Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4.
JID innovations : skin science from molecules to population health, 2025
|
Main article | |
| FOXRED1 |
NM_017547.4:c.658C>T
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
40369053
Investigating the dual role of mitochondrial and nuclear genome variants in pediatric cardiomyopathies.
Scientific reports, 2025
|
Main article and supplement | |
| LAMA2 |
NM_000426.4:c.8324C>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
40361203
A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies.
Human genomics, 2025
|
Main article | |
| DAG1 |
NM_004393.6:c.185C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
40361203
A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies.
Human genomics, 2025
|
Main article | |
| SYNJ1 |
NM_203446.3:c.1559T>C
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
40335451
Genetic Sketch of Parkinson's Disease in India.
Annals of Indian Academy of Neurology, 2025
|
Main article | |
| ATM |
NM_000051.4:c.8734A>G
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
40076787
Special Issue "Cancer Biomarker: Current Status and Future Perspectives".
International journal of molecular sciences, 2025
|
Main article | |
| LYST |
NM_000081.4:c.7385C>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
39980892
Post-COVID-19 Neutropenia in an Infant With Thalassemia Minor: Case Report.
Clinical case reports, 2025
|
Main article | |
| LRP5 |
NM_002335.4:c.1310C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
39903177
Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes.
Investigative ophthalmology & visual science, 2025
|
Main article and supplement | |