LRP4 Chromosome 11
LDL receptor related protein 4
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What This Gene Does
This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]
Gene Info
Gene Group
Low density lipoprotein receptors
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000134569
Associated Conditions (11)
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Sclerosteosis 2
Inborn genetic diseases
LRP4-related disorder
Meniere disease
Intellectual disability
Epilepsy
Isolated hand syndactyly
Other rare neuromuscular disorders
Abnormality of the musculature
Key Variants
RS1011484252
Conflicting classifications of pathogenicity
Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2
Health Risk
RS1190944217
Conflicting classifications of pathogenicity
Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17
Health Risk
RS137882536
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 17, Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
Health Risk
RS138239756
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 17, Sclerosteosis 2, Cenani-Lenz syndactyly syndrome
Health Risk
RS138589242
Conflicting classifications of pathogenicity
Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17
Health Risk
RS138878258
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 17, Sclerosteosis 2, Cenani-Lenz syndactyly syndrome
Health Risk
RS1391979900
Conflicting classifications of pathogenicity
Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17
Health Risk
RS140186161
Conflicting classifications of pathogenicity
Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17
Health Risk
RS140757594
Conflicting classifications of pathogenicity
Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17
Health Risk
RS144169411
Conflicting classifications of pathogenicity
Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2
Health Risk
RS144350829
Conflicting classifications of pathogenicity
Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2
Health Risk
RS144974139
Conflicting classifications of pathogenicity
Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17
Health Risk
All Variants (91)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1011484252 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS1190944217 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS137882536 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 17, Cenani-Lenz syndactyly syndrome, Sclerosteosis 2 |
| RS138239756 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 17, Sclerosteosis 2, Cenani-Lenz syndactyly syndrome |
| RS138589242 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS138878258 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 17, Sclerosteosis 2, Cenani-Lenz syndactyly syndrome |
| RS1391979900 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS140186161 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS140757594 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS144169411 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS144350829 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS144974139 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS145460760 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 17, Sclerosteosis 2, Cenani-Lenz syndactyly syndrome |
| RS145557677 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 17, Cenani-Lenz syndactyly syndrome, Sclerosteosis 2 |
| RS146362081 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 17, Sclerosteosis 2, Cenani-Lenz syndactyly syndrome |
| RS146501212 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS147353838 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS147688807 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS148557097 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 17, Sclerosteosis 2, Cenani-Lenz syndactyly syndrome |
| RS149082597 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS150681693 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS150734530 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS150777198 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS151234321 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS17848224 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS17848229 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS185084650 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS199654257 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS200963011 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS201253200 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS201749120 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS201957426 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 17, Cenani-Lenz syndactyly syndrome, Sclerosteosis 2 |
| RS368640705 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS368653860 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS371763360 | Health Risk | Conflicting classifications of pathogenicity | Sclerosteosis 2, Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17 |
| RS372210790 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 17, Sclerosteosis 2, Cenani-Lenz syndactyly syndrome |
| RS373579793 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS374136996 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS374890595 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS375108263 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS376073181 | Health Risk | Conflicting classifications of pathogenicity | Sclerosteosis 2, Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17 |
| RS376909913 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 17, Sclerosteosis 2, Cenani-Lenz syndactyly syndrome |
| RS387906883 | Health Risk | Conflicting classifications of pathogenicity | Sclerosteosis 2, Congenital myasthenic syndrome 17, Cenani-Lenz syndactyly syndrome |
| RS541585714 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS541593593 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS550931351 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS574108233 | Health Risk | Conflicting classifications of pathogenicity | Sclerosteosis 2, Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17 |
| RS61742871 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS61746928 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS746028762 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |