Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
A4GALT, AARS1
Normalized c.HGVS
c.*609_*612dup, c.*611_*612dup, c.-103C>G, c.-206_-205dup, c.-247T>C and 45 more
Normalized p.HGVS
p.(=), p.(Ala200Thr), p.(Arg124Trp), p.(Arg1425Cys), p.(Arg1439Thr) and 27 more
Matching records
45732
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 |
|---|---|---|---|---|---|---|
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| LDLRAP1 |
NM_015627.3:c.451C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
39802654
Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach.
Atherosclerosis plus, 2024
|
Main article and supplement | |
| BRIP1 |
NM_032043.3:c.3525dup
|
Other Patient-Level Evidence
Not assessed
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
39684258
Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background.
International journal of molecular sciences, 2024
|
Main article and supplement | |
| ALPK3 |
NM_020778.5:c.5114G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
39554508
Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.
Frontiers in medicine, 2024
|
Main article and supplement | |
| MYPN |
NM_032578.4:c.3335C>A
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
39554508
Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.
Frontiers in medicine, 2024
|
Main article and supplement | |
| DBT |
NM_001918.5:c.577G>A
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
39519275
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
International journal of molecular sciences, 2024
|
Main article and supplement | |
| MUTYH |
NM_001048174.2:c.1222C>G
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
39518056
Clinical Assessment and Genetic Testing for Hereditary Polyposis Syndromes in an Italian Cohort of Patients with Colorectal Polyps.
Cancers, 2024
|
Main article and supplement | |
| ITGA2B |
NM_000419.5:c.457G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
39035772
Whole Exome Sequencing in Vaccine-Induced Thrombotic Thrombocytopenia (VITT).
BioMed research international, 2024
|
Main article and supplement | |
| ALG3 |
NM_005787.6:c.778C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
38796496
Genetic susceptibility to optic neuropathy in patients with alcohol use disorder.
Journal of translational medicine, 2024
|
Main article and supplement | |
| GJB2 |
NM_004004.6:c.663G>C
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
38791074
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Biomedicines, 2024
|
Main article and supplement | |
| GOSR2 |
NM_004287.5:c.509A>G
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
38756210
Cardiac arrhythmia and epilepsy genetic variants in sudden unexpected death in epilepsy.
Frontiers in neurology, 2024
|
Main article and supplement | |
| SDHB |
NM_003000.3:c.523G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
38473309
Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.
Cancers, 2024
|
Main article and supplement | |
| WDR19 |
NM_025132.4:c.326G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
38163131
Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report.
Heliyon, 2023
|
Main article and supplement | |
| COL1A2 |
NM_000089.4:c.2642A>C
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
37810882
NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.
Frontiers in endocrinology, 2023
|
Main article and supplement | |
| BRCA1 |
NM_007294.4:c.4836G>C
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
37760409
F-box DNA Helicase 1 (FBH1) Contributes to the Destabilization of DNA Damage Repair Machinery in Human Cancers.
Cancers, 2023
|
Main article and supplement | |
| BBS1 |
NM_024649.5:c.329C>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
37745851
Identification of potential key variants in mandibular premolar hypodontia through whole-exome sequencing.
Frontiers in genetics, 2023
|
Main article and supplement | |