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Recognized gene
LRP5
Normalized c.HGVS
c.1226C>T, c.122G>A, c.130C>T, c.1316G>A, c.148G>A and 45 more
Normalized p.HGVS
p.(Ala1076Val), p.(Ala1131Thr), p.(Ala1131Val), p.(Ala1537Thr), p.(Ala606Val) and 45 more
Matching records
388
PM3-positive records
16
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 |
|---|---|---|---|---|---|---|
| LRP5 |
NM_002335.4:c.2873G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2366C>A; Ala789Asp
context: Compound heterozygous candidate
|
41412793
Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR.
Journal of medical genetics, 2026
|
Main article | |
| LRP5 |
NM_002335.4:c.1021G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4835C>A; p.T1612K
context: Compound heterozygous candidate
|
38881609
Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.
Ophthalmology science, 2024
|
Main article | |
| LRP5 |
NM_002335.4:c.3280G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1333C>T; p.L445F
context: Compound heterozygous candidate
|
38881609
Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.
Ophthalmology science, 2024
|
Main article | |
| LRP5 |
NM_002335.4:c.3917C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38355430
Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria.
BMC pediatrics, 2024
|
Main article | |
| LRP5 |
NM_002335.4:c.796C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
36971833
Novel mutation in LRP5 gene cause rare osteosclerosis: cases studies and literature review.
Molecular genetics and genomics : MGG, 2023
|
Main article | |
| LRP5 |
NM_002335.4:c.34CTG[12]
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Possible compound heterozygous with Ala1330Val
context: Compound heterozygous candidate
|
35328049
A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes.
Genes, 2022
|
Main article | |
| LRP5 |
NM_002335.4:c.3280G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1333C>T; p.L445F
context: Compound heterozygous candidate
|
35106624
Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients' management using bisphosphonates therapy.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2022
|
Main article | |
| LRP5 |
NM_002335.4:c.4445C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.(R1036Q)
context: Compound heterozygous candidate
|
35052486
Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment.
Genes, 2022
|
Main article | |
| LRP5 |
NM_002335.4:c.4484C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with R1036Q; R258C; S1482L
context: Compound heterozygous candidate
|
35052486
Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment.
Genes, 2022
|
Main article | |
| LRP5 |
NM_002335.4:c.2237G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
34860240
Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.
Investigative ophthalmology & visual science, 2021
|
Main article | |
| LRP5 |
NM_002335.4:c.34CTG[12]
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Confirmed in trans with c.1294T>G; p.W432G
context: Confirmed in trans
|
34860240
Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.
Investigative ophthalmology & visual science, 2021
|
Main article | |
| LRP5 |
NM_002335.4:c.3656G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.C1265T; A422V
context: Compound heterozygous candidate
|
32884132
A novel statistical method for interpreting the pathogenicity of rare variants.
Genetics in medicine : official journal of the American College of Medical Genetics, 2021
|
Supplementary material | |
| LRP5 |
NM_002335.4:c.4517C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.C1265T; A422V; Q368X
context: Compound heterozygous candidate
|
32884132
A novel statistical method for interpreting the pathogenicity of rare variants.
Genetics in medicine : official journal of the American College of Medical Genetics, 2021
|
Supplementary material | |
| LRP5 |
NM_002335.4:c.796C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
33193107
The Genetic Architecture of High Bone Mass.
Frontiers in endocrinology, 2020
|
Main article | |
| LRP5 |
NM_002335.4:c.3913T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1330C>T; p.(Arg444Cys)
context: Compound heterozygous candidate
|
31106028
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Translational vision science & technology, 2019
|
Supplementary material | |
| LRP5 |
NM_002335.4:c.2773C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
22487062
Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.
BMC medical genetics, 2012
|
Main article | |
| LRP5 |
NM_002335.4:c.1310C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
39903177
Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes.
Investigative ophthalmology & visual science, 2025
|
Main article and supplement | |
| LRP5 |
NM_002335.4:c.3443C>T
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
39193113
Idiopathic juvenile osteoporosis-a polygenic disorder?
JBMR plus, 2024
|
Main article | |
| LRP5 |
NM_002335.4:c.34CTG[4]
|
Other Patient-Level Evidence
Not assessed
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
35328049
A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes.
Genes, 2022
|
Main article | |
| LRP5 |
NM_002335.4:c.772C>T
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
35052486
Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment.
Genes, 2022
|
Main article | |