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Recognized gene
LRP4
Normalized c.HGVS
c.1006G>A, c.1048C>T, c.1054C>T, c.1055G>A, c.1087G>A and 43 more
Normalized p.HGVS
p.(Arg350Trp), p.(Arg352Gln), p.(Arg352Trp), p.(Arg385Trp), p.(Arg427Gln) and 43 more
Matching records
227
PM3-positive records
12
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 |
|---|---|---|---|---|---|---|
| LRP4 |
NM_002334.4:c.3830G>A
|
Phase-confirmed PM3 evidence
Not assessed
|
No PM3 candidate genotype identified
context: Confirmed in trans
|
24234652
LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.
Human molecular genetics, 2014
|
Main article | |
| LRP4 |
NM_002334.4:c.956G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1538C>G; c.3620A>G
context: Compound heterozygous candidate
|
40842263
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes.
Clinical genetics, 2026
|
Main article | |
| LRP4 |
NM_002334.4:c.1480C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4863_4864delinsAT; p.Asn1621_Gly1622delinsLysCys
context: Compound heterozygous candidate
|
40999323
Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.
Genetics, selection, evolution : GSE, 2025
|
Main article | |
| LRP4 |
NM_002334.4:c.4154A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
36829498
Rare Variants in LRP4 Are Associated with Mesiodens, Root Maldevelopment, and Oral Exostoses in Humans.
Biology, 2023
|
Main article | |
| LRP4 |
NM_002334.4:c.4493G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1079T>G; c.1081A>T; p.N361Y; +1 more
context: Compound heterozygous candidate
|
36387164
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers in oncology, 2022
|
Supplementary material | |
| LRP4 |
NM_002334.4:c.3697G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.3830G>A; p.Arg1277His
context: Compound heterozygous candidate
|
29355968
The unfolding landscape of the congenital myasthenic syndromes.
Annals of the New York Academy of Sciences, 2018
|
Main article | |
| LRP4 |
NM_002334.4:c.3830G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3679G>A; p.Glu1233Lys
context: Compound heterozygous candidate
|
29355968
The unfolding landscape of the congenital myasthenic syndromes.
Annals of the New York Academy of Sciences, 2018
|
Main article | |
| LRP4 |
NM_002334.4:c.3697G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with Arg1277His
context: Compound heterozygous candidate
|
26052878
Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia.
JAMA neurology, 2015
|
Main article | |
| LRP4 |
NM_002334.4:c.3830G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.Glu1233Lys
context: Compound heterozygous candidate
|
26052878
Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia.
JAMA neurology, 2015
|
Main article | |
| LRP4 |
NM_002334.4:c.3697G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with R1277H
context: Compound heterozygous candidate
|
25792100
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
The Lancet. Neurology, 2015
|
Main article | |
| LRP4 |
NM_002334.4:c.3830G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with E1233K
context: Compound heterozygous candidate
|
25792100
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
The Lancet. Neurology, 2015
|
Main article | |
| LRP4 |
NM_002334.4:c.3697G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.3830G > A; RH mutation; p.Arg1277His
context: Confirmed in trans
|
24234652
LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.
Human molecular genetics, 2014
|
Main article | |
| LRP4 |
NM_002334.4:c.2837C>G
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
36999085
Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system.
Frontiers in pediatrics, 2023
|
Main article | |
| LRP4 |
NM_002334.4:c.3697G>A
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
33671084
Secreted Signaling Molecules at the Neuromuscular Junction in Physiology and Pathology.
International journal of molecular sciences, 2021
|
Main article | |
| LRP4 |
NM_002334.4:c.3830G>A
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
33671084
Secreted Signaling Molecules at the Neuromuscular Junction in Physiology and Pathology.
International journal of molecular sciences, 2021
|
Main article | |
| LRP4 |
NM_002334.4:c.1831C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41408627
WNT10A-SMOC2-LRP4 network affects permanent tooth development via potential tooth-bone interaction.
BMC oral health, 2025
|
Main article | |
| LRP4 |
NM_002334.4:c.505G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
36906579
Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.
Nature communications, 2023
|
Main article | |
| LRP4 |
NM_002334.4:c.3940G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
36829498
Rare Variants in LRP4 Are Associated with Mesiodens, Root Maldevelopment, and Oral Exostoses in Humans.
Biology, 2023
|
Main article and supplement | |
| LRP4 |
NM_002334.4:c.788G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
36922933
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer research communications, 2022
|
Main article and supplement | |
| LRP4 |
NM_002334.4:c.3454A>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
36777185
Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.
Cell genomics, 2022
|
Main article and supplement | |