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Recognized gene
KCNQ1
Normalized c.HGVS
c.-3G>A, c.1070A>G, c.1132G>A, c.1190G>A, c.1196C>G and 44 more
Normalized p.HGVS
p.(=), p.(Ala194Pro), p.(Ala287Glu), p.(Ala287Ser), p.(Ala287Thr) and 44 more
Matching records
430
PM3-positive records
18
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 |
|---|---|---|---|---|---|---|
| KCNQ1 |
NM_000218.3:c.574C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1032G>A; Ala344Alasp; p.Ala344Alasp
context: Confirmed in trans
|
22629021
Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome.
Journal of cardiovascular disease research, 2012
|
Main article | |
| KCNQ1 |
NM_000218.3:c.574C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
41768584
Case Report Series: Genetic and clinical characterization of long QT syndrome in admixed Ecuadorian patients and its implications for sudden cardiac death risk.
Frontiers in cardiovascular medicine, 2026
|
Main article | |
| KCNQ1 |
NM_000218.3:c.1831G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.546C>A; p.S182R
context: Compound heterozygous candidate
|
41147441
Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.
Channels (Austin, Tex.), 2025
|
Main article | |
| KCNQ1 |
NM_000218.3:c.217C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.328G>A; p.Val110Ile
context: Compound heterozygous candidate
|
38756210
Cardiac arrhythmia and epilepsy genetic variants in sudden unexpected death in epilepsy.
Frontiers in neurology, 2024
|
Main article | |
| KCNQ1 |
NM_000218.3:c.590C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with K196T
context: Compound heterozygous candidate
|
36339618
Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K(+) channels: Validation with hERG.
Frontiers in pharmacology, 2022
|
Supplementary material | |
| KCNQ1 |
NM_000218.3:c.31G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: PM3 evidence context not structured
|
33614747
Territory-Wide Chinese Cohort of Long QT Syndrome: Random Survival Forest and Cox Analyses.
Frontiers in cardiovascular medicine, 2021
|
Main article | |
| KCNQ1 |
NM_000218.3:c.328G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with H105L
context: Compound heterozygous candidate
|
30828412
Protein structure aids predicting functional perturbation of missense variants in SCN5A and KCNQ1.
Computational and structural biotechnology journal, 2019
|
Supplementary material | |
| KCNQ1 |
NM_000218.3:c.590C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with I227L; P197S; R109L; +4 more
context: Compound heterozygous candidate
|
30828412
Protein structure aids predicting functional perturbation of missense variants in SCN5A and KCNQ1.
Computational and structural biotechnology journal, 2019
|
Supplementary material | |
| KCNQ1 |
NM_000218.3:c.217C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
28588847
A case of long QT syndrome: challenges on a bumpy road.
Clinical case reports, 2017
|
Main article | |
| KCNQ1 |
NM_000218.3:c.1876G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
28316956
Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.
Journal of biological research (Thessalonike, Greece), 2017
|
Main article | |
| KCNQ1 |
NM_000218.3:c.1831G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.546C > A; p. S182R
context: Compound heterozygous candidate
|
27917693
Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome.
Acta oto-laryngologica, 2017
|
Main article | |
| KCNQ1 |
NM_000218.3:c.1343C>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with second mutation with abnormal electrophysiological properties; second mutation within the transmembrane region
context: Compound heterozygous candidate
|
25854863
Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel.
Journal of cardiovascular translational research, 2015
|
Main article | |
| KCNQ1 |
NM_000218.3:c.1343C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with second mutation with abnormal electrophysiological properties; second mutation within the transmembrane region
context: Compound heterozygous candidate
|
25854863
Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel.
Journal of cardiovascular translational research, 2015
|
Main article | |
| KCNQ1 |
NM_000218.3:c.1351C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with second mutation that was either within the transmembrane region or previously shown to have an abnormal electrophysiological properties
context: Compound heterozygous candidate
|
25854863
Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel.
Journal of cardiovascular translational research, 2015
|
Main article | |
| KCNQ1 |
NM_000218.3:c.1201C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1_2insA; c.G1520A; p.M1fs; +1 more
context: Compound heterozygous candidate
|
23396983
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
Journal of medical genetics, 2013
|
Supplementary material | |
| KCNQ1 |
NM_000218.3:c.1343C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with P320S
context: Compound heterozygous candidate
|
23392653
Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.
Circulation. Cardiovascular genetics, 2013
|
Main article | |
| KCNQ1 |
NM_000218.3:c.958C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with P448L
context: Compound heterozygous candidate
|
23392653
Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.
Circulation. Cardiovascular genetics, 2013
|
Main article | |
| KCNQ1 |
NM_000218.3:c.217C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
23098067
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
BMC cardiovascular disorders, 2012
|
Main article | |
| 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 | |
| KCNQ1 |
NM_000218.3:c.397G>A
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
32797034
A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.
PLoS computational biology, 2020
|
Main article | |