Search GLEAM-DB / CoGenEx-PM3
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Input query
Recognized gene
Not recognized
Normalized c.HGVS
c.*1251G>A, c.*1531G>A, c.*521C>T, c.*609_*612dup, c.*611_*612dup and 44 more
Normalized p.HGVS
p.(=), p.(Arg4437Cys), p.(Lys542Asn), p.(Pro615Thr), p.(Val475Ile)
Matching records
99490
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 |
|---|---|---|---|---|---|---|
| TTLL5 |
NM_015072.5:c.2030G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41941273
Insights into retinal disease and non-tubulin glutamylation from a RPGR-TTLL5 complex structure.
The Journal of cell biology, 2026
|
Main article | |
| CD247 |
NM_198053.3:c.491G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41931610
A stromal PAI1-tPA axis orchestrates immunosuppression in pancreatic cancer.
Science advances, 2026
|
Main article | |
| SLC25A13 |
NM_014251.3:c.674C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41923674
Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.
Molecular genetics and metabolism, 2026
|
Unknown | |
| ERCC2 |
NM_000400.4:c.1255G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41917613
CBC3T-3: a novel patient-derived cisplatin-resistant distal cholangiocarcinoma cell line harboring multiple TP53 missense mutations.
Human cell, 2026
|
Main article | |
| BLM |
NM_000057.4:c.2069C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41914496
TRF2-RAP1 inhibits homology-directed repair of telomeres by promoting BLM-mediated removal of telomere R-loops.
Nucleic acids research, 2026
|
Main article | |
| OCA2 |
NM_000275.3:c.1465A>T
|
No PM3 Evidence Identified
Low confidence
|
No PM3 candidate genotype identified |
41905947
Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.
Pigment cell & melanoma research, 2026
|
Main article | |
| AP3B1 |
NM_003664.5:c.2048A>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41905947
Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.
Pigment cell & melanoma research, 2026
|
Main article | |
| HPS6 |
NM_024747.6:c.1A>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41905947
Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.
Pigment cell & melanoma research, 2026
|
Main article | |
| MSH6 |
NM_000179.3:c.1697G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41899408
A Novel Self-Competitive Fishing Primer qPCR Approach for Efficient POLE Mutation Detection in Endometrial Cancer Molecular Classification.
Current issues in molecular biology, 2026
|
Main article | |
| MLH1 |
NM_000249.4:c.1625A>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41899408
A Novel Self-Competitive Fishing Primer qPCR Approach for Efficient POLE Mutation Detection in Endometrial Cancer Molecular Classification.
Current issues in molecular biology, 2026
|
Main article | |
| MLH1 |
NM_000249.4:c.1625A>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41899408
A Novel Self-Competitive Fishing Primer qPCR Approach for Efficient POLE Mutation Detection in Endometrial Cancer Molecular Classification.
Current issues in molecular biology, 2026
|
Main article | |
| MLH1 |
NM_000249.4:c.2089C>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41899408
A Novel Self-Competitive Fishing Primer qPCR Approach for Efficient POLE Mutation Detection in Endometrial Cancer Molecular Classification.
Current issues in molecular biology, 2026
|
Main article | |
| MLH1 |
NM_000249.4:c.2254G>C
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41899408
A Novel Self-Competitive Fishing Primer qPCR Approach for Efficient POLE Mutation Detection in Endometrial Cancer Molecular Classification.
Current issues in molecular biology, 2026
|
Main article | |
| PMS2 |
NM_000535.7:c.1420G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41899408
A Novel Self-Competitive Fishing Primer qPCR Approach for Efficient POLE Mutation Detection in Endometrial Cancer Molecular Classification.
Current issues in molecular biology, 2026
|
Main article | |
| PMS2 |
NM_000535.7:c.884G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41899408
A Novel Self-Competitive Fishing Primer qPCR Approach for Efficient POLE Mutation Detection in Endometrial Cancer Molecular Classification.
Current issues in molecular biology, 2026
|
Main article | |
| LIG1 |
NM_000234.3:c.2535G>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41895445
Fidelity of DNA ligase I is sensitive to physiological Mg(2+) level.
The Journal of biological chemistry, 2026
|
Main article | |
| RELN |
NM_005045.4:c.10340A>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41893052
Genetic Architecture of Cognitive Resilience in Alzheimer's Disease: Mechanisms, Pathways, and Therapeutic Implications.
Neurology international, 2026
|
Main article | |
| ACADS |
NM_000017.4:c.250G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41892026
Incorporating Next-Generation Sequencing in Newborn Screening for Organic Acidemias.
International journal of neonatal screening, 2026
|
Main article | |
| MCCC2 |
NM_022132.5:c.1663A>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41892026
Incorporating Next-Generation Sequencing in Newborn Screening for Organic Acidemias.
International journal of neonatal screening, 2026
|
Main article | |
| PAH |
NM_000277.3:c.168+5G>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41892021
Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.
International journal of neonatal screening, 2026
|
Main article | |