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Recognized gene
PLEC
Normalized c.HGVS
c.11257G>A, c.11755G>A, c.1252C>G, c.12670G>A, c.1267G>A and 45 more
Normalized p.HGVS
p.(=), p.(Ala1045Val), p.(Ala1390Val), p.(Ala1431Val), p.(Ala2146Val) and 45 more
Matching records
2127
PM3-positive records
38
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 |
|---|---|---|---|---|---|---|
| PLEC |
NM_201384.3:c.6523G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38819424
A Curious Case of Proximal Muscle Weakness with Intermittent Exacerbations.
Annals of Indian Academy of Neurology, 2024
|
Main article | |
| PLEC |
NM_201384.3:c.5333C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1495C>T; c.5843G>A; c.7312-7314delGAG; +1 more
context: Compound heterozygous candidate
|
36349777
Collagen IV and Podocyte-Related Gene Variants in Patients with Concurrent IgA Nephropathy and Thin Basement Membrane Nephropathy.
Nephron, 2023
|
Main article | |
| PLEC |
NM_201384.3:c.2768G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
35815343
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Human mutation, 2022
|
Main article | |
| PLEC |
NM_201384.3:c.3005G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.9598_9685del; p.Asp3202Valfs*21
context: Compound heterozygous candidate
|
35815343
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Human mutation, 2022
|
Main article | |
| PLEC |
NM_201384.3:c.3049C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.11422G>A; p.Gly3808Ser
context: Compound heterozygous candidate
|
35815343
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Human mutation, 2022
|
Main article | |
| PLEC |
NM_201384.3:c.3526C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
35815343
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Human mutation, 2022
|
Main article | |
| PLEC |
NM_201384.3:c.4363C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
35815343
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Human mutation, 2022
|
Main article | |
| PLEC |
NM_201384.3:c.5026C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1241A>G; p.Gln414Arg
context: Compound heterozygous candidate
|
35815343
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Human mutation, 2022
|
Main article | |
| PLEC |
NM_201384.3:c.5122C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1241A>G; c.6970C>T; p.Arg2324*; +1 more
context: Compound heterozygous candidate
|
35815343
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Human mutation, 2022
|
Main article | |
| PLEC |
NM_201384.3:c.6667C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.10375C>T; p.Gln3459*
context: Compound heterozygous candidate
|
35815343
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Human mutation, 2022
|
Main article | |
| PLEC |
NM_201384.3:c.7114C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2807dupT; p.Leu937Profs*19
context: Compound heterozygous candidate
|
35815343
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Human mutation, 2022
|
Main article | |
| PLEC |
NM_201384.3:c.7192C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
35815343
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Human mutation, 2022
|
Main article | |
| PLEC |
NM_201384.3:c.3775G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6172C > T; p.R2058W
context: Compound heterozygous candidate
|
35670010
Clinicopathological-genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre.
Journal of cellular and molecular medicine, 2022
|
Main article | |
| PLEC |
NM_201384.3:c.5498G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4756C > T; p.R1586C
context: Compound heterozygous candidate
|
35670010
Clinicopathological-genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre.
Journal of cellular and molecular medicine, 2022
|
Main article | |
| PLEC |
NM_201384.3:c.3005G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with 9679_9766del; D3229VfsX21; del
context: Compound heterozygous candidate
|
34572129
Muscle-Related Plectinopathies.
Cells, 2021
|
Main article | |
| PLEC |
NM_201384.3:c.12746C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.R1965Q
context: Compound heterozygous candidate
|
32650224
Genomic characterization of Chinese ovarian clear cell carcinoma identifies driver genes by whole exome sequencing.
Neoplasia (New York, N.Y.), 2020
|
Main article | |
| PLEC |
NM_201384.3:c.2962G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.Q4047H
context: Compound heterozygous candidate
|
32650224
Genomic characterization of Chinese ovarian clear cell carcinoma identifies driver genes by whole exome sequencing.
Neoplasia (New York, N.Y.), 2020
|
Main article | |
| PLEC |
NM_201384.3:c.4403G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.R1287W
context: Compound heterozygous candidate
|
32650224
Genomic characterization of Chinese ovarian clear cell carcinoma identifies driver genes by whole exome sequencing.
Neoplasia (New York, N.Y.), 2020
|
Main article | |
| PLEC |
NM_201384.3:c.12320G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.7928A > G; p.Glu2643Gly
context: Compound heterozygous candidate
|
32576226
Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.
Orphanet journal of rare diseases, 2020
|
Main article | |
| PLEC |
NM_201384.3:c.7928A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.12731G > A; p.Arg4244His
context: Compound heterozygous candidate
|
32576226
Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.
Orphanet journal of rare diseases, 2020
|
Main article | |