Search GLEAM-DB / CoGenEx-PM3
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Input query
Recognized gene
AARS1, AARS2, AASS, ABAT, ABCA3 and 5 more
Normalized c.HGVS
c.102C>G, c.1049C>T, c.1124T>G, c.1180C>A, c.1199G>A and 45 more
Normalized p.HGVS
p.(=), p.(Ala1405Val), p.(Ala1700Thr), p.(Ala2147Thr), p.(Ala449Val) and 39 more
Matching records
5348
PM3-positive records
8
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 |
|---|---|---|---|---|---|---|
| PIEZO1 |
NM_001142864.4:c.5284C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with E2257C
context: Compound heterozygous candidate
|
31968259
Inactivation Kinetics and Mechanical Gating of Piezo1 Ion Channels Depend on Subdomains within the Cap.
Cell reports, 2020
|
Supplementary material | |
| GUCY2D |
NM_000180.4:c.1220C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
30380422
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell reports, 2018
|
Supplementary material | |
| SLC25A4 |
NM_001151.4:c.731G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
30380422
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell reports, 2018
|
Supplementary material | |
| C2CD3 |
NM_001286577.2:c.1259C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
30380422
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell reports, 2018
|
Supplementary material | |
| CC2D2A |
NM_001378615.1:c.3533T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
30380422
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell reports, 2018
|
Supplementary material | |
| BAAT |
NM_001701.4:c.390G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
30380422
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell reports, 2018
|
Supplementary material | |
| ZBTB24 |
NM_014797.3:c.1237C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
30380422
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell reports, 2018
|
Supplementary material | |
| COQ2 |
NM_001358921.2:c.-23C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
30344007
Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy.
Stem cell reports, 2018
|
Supplementary material | |
| FIG4 |
NM_014845.6:c.730C>T
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
26257172
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Cell reports, 2015
|
Main article | |
| ACADVL |
NM_000018.4:c.332G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41592533
Investigation of synaptic connectivity in functional in vitro neuronal assemblies.
Cell reports methods, 2026
|
Main article | |
| MSH6 |
NM_000179.3:c.899G>C
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
40818457
Toripalimab, bevacizumab, and irinotecan in dMMR/MSI locally advanced colorectal cancer: First-stage results from a phase 1b/2 trial.
Cell reports. Medicine, 2025
|
Main article | |
| MSH6 |
NM_000179.3:c.899G>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
40818457
Toripalimab, bevacizumab, and irinotecan in dMMR/MSI locally advanced colorectal cancer: First-stage results from a phase 1b/2 trial.
Cell reports. Medicine, 2025
|
Main article | |
| WFS1 |
NM_006005.3:c.113G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
40592345
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Cell reports. Medicine, 2025
|
Main article | |
| GBA1 |
NM_000157.4:c.1103G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
40056900
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.
Cell reports, 2025
|
Main article and supplement | |
| CASR |
NM_000388.4:c.496A>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
39764852
DDX50 cooperates with STAU1 to effect stabilization of pro-differentiation RNAs.
Cell reports, 2025
|
Main article | |
| SLC25A3 |
NM_002635.4:c.544A>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
39671292
Mitochondrial transplantation rescues Ca(2+) homeostasis imbalance and myocardial hypertrophy in SLC25A3-related hypertrophic cardiomyopathy.
Cell reports, 2024
|
Main article | |
| SDHB |
NM_003000.3:c.65G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
39657681
Ensemble and consensus approaches to prediction of recessive inheritance for missense variants in human disease.
Cell reports methods, 2024
|
Main article and supplement | |
| SDHB |
NM_003000.3:c.65G>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
39657681
Ensemble and consensus approaches to prediction of recessive inheritance for missense variants in human disease.
Cell reports methods, 2024
|
Main article and supplement | |
| CTSD |
NM_001909.5:c.14G>C
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
39426374
Single-cell profiling reveals a conserved role for hypoxia-inducible factor signaling during human craniotomy infection.
Cell reports. Medicine, 2024
|
Main article and supplement | |
| NTRK1 |
NM_002529.4:c.1783G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
39365700
ERK signaling promotes resistance to TRK kinase inhibition in NTRK fusion-driven glioma mouse models.
Cell reports, 2024
|
Main article and supplement | |