Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
AARS1, ABCA3, ABCA4, ABCB4, ABCG5 and 20 more
Normalized c.HGVS
c.1066A>G, c.11068G>A, c.1124T>G, c.1195C>T, c.1285G>A and 45 more
Normalized p.HGVS
p.(Ala1699Val), p.(Ala2503Ser), p.(Ala286Val), p.(Ala429Thr), p.(Ala514Thr) and 44 more
Matching records
870
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 | |
| ACADS |
NM_000017.4:c.1195C>T
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
41892026
Incorporating Next-Generation Sequencing in Newborn Screening for Organic Acidemias.
International journal of neonatal screening, 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 | |
| ATM |
NM_000051.4:c.8672G>A
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
41715124
Novel genetic variants identification and immune profiling in ataxia telangiectasia patients.
Journal of translational medicine, 2026
|
Main article | |
| TTN |
NM_001267550.2:c.8687C>T
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
41569083
A titin missense variant drives atrial electrical remodeling and is associated with atrial fibrillation.
eLife, 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 | |
| PIEZO1 |
NM_001142864.4:c.4072C>T
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
41407458
[Dehydrated hereditary stomatocytosis in 23 cases: a single-center retrospective cohort study from Peking Union Medical College Hospital (2018-2024)].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi, 2025
|
Main article | |
| PCDH15 |
NM_001384140.1:c.2539G>A
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
41359850
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Proceedings of the National Academy of Sciences of the United States of America, 2025
|
Main article | |
| SLC7A7 |
NM_003982.4:c.380T>C
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
41296379
Pathogenic FANCC Variants Are Associated with Accessory Breasts in a Sub-Saharan African Multiplex Family.
Current issues in molecular biology, 2025
|
Main article | |
| TULP1 |
NM_003322.6:c.499+5G>C
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
41060150
Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.
Investigative ophthalmology & visual science, 2025
|
Main article | |
| CDH23 |
NM_022124.6:c.3179G>A
|
Other Patient-Level Evidence
Low 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 | |
| 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 | |
| ATP7B |
NM_000053.4:c.3325G>A
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
40661833
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Human mutation, 2025
|
Main article | |
| PIEZO1 |
NM_001142864.4:c.4027GAG[1]
|
Other Patient-Level Evidence
Not assessed
|
No PM3 candidate genotype identified |
40628291
PIEZO1 variant implications for biological understanding and human health.
Open biology, 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 | |
| DNAH5 |
NM_001369.3:c.11632G>A
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
40558543
Molecular Insights into Outer Dynein Arm Defects in Primary Ciliary Dyskinesia: Involvement of ZMYND10 and GRP78.
Cells, 2025
|
Supplementary material | |