LMOD3 Chromosome 3

Leiomodin 3
44 variants 44 Health Risk

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What This Gene Does
The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder. [provided by RefSeq, Jan 2015]
Gene Info
Gene Group
Leiomodins
Locus Type
gene with protein product
Location
3p14.1
Ensembl
ENSG00000163380
Associated Conditions (3)
Nemaline myopathy 10
Inborn genetic diseases
LMOD3-related disorder
Key Variants
RS149196259
Conflicting classifications of pathogenicity
Nemaline myopathy 10, Inborn genetic diseases, LMOD3-related disorder
Health Risk
RS150380359
Conflicting classifications of pathogenicity
Nemaline myopathy 10, Inborn genetic diseases, LMOD3-related disorder
Health Risk
RS1553687898
Conflicting classifications of pathogenicity
Nemaline myopathy 10, Nemaline myopathy 10
Health Risk
RS199592188
Conflicting classifications of pathogenicity
Nemaline myopathy 10, Inborn genetic diseases, LMOD3-related disorder
Health Risk
RS200367429
Conflicting classifications of pathogenicity
Nemaline myopathy 10, Nemaline myopathy 10
Health Risk
RS201205115
Conflicting classifications of pathogenicity
Nemaline myopathy 10, Nemaline myopathy 10
Health Risk
RS201506296
Conflicting classifications of pathogenicity
Nemaline myopathy 10, Inborn genetic diseases, Nemaline myopathy 10
Health Risk
RS773327736
Conflicting classifications of pathogenicity
Nemaline myopathy 10, Inborn genetic diseases, Nemaline myopathy 10
Health Risk
RS775919681
Conflicting classifications of pathogenicity
Nemaline myopathy 10, Nemaline myopathy 10
Health Risk
RS778824655
Conflicting classifications of pathogenicity
Nemaline myopathy 10, Nemaline myopathy 10
Health Risk
RS9835034
Conflicting classifications of pathogenicity
Nemaline myopathy 10, Nemaline myopathy 10
Health Risk
RS2092413018
Likely pathogenic
Nemaline myopathy 10, Nemaline myopathy 10
Health Risk
All Variants (44)
RSID Category Clinical Significance Conditions
RS149196259 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Inborn genetic diseases, LMOD3-related disorder
RS150380359 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Inborn genetic diseases, LMOD3-related disorder
RS1553687898 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Nemaline myopathy 10
RS199592188 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Inborn genetic diseases, LMOD3-related disorder
RS200367429 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Nemaline myopathy 10
RS201205115 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Nemaline myopathy 10
RS201506296 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Inborn genetic diseases, Nemaline myopathy 10
RS773327736 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Inborn genetic diseases, Nemaline myopathy 10
RS775919681 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Nemaline myopathy 10
RS778824655 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Nemaline myopathy 10
RS9835034 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Nemaline myopathy 10
RS2092413018 Health Risk Likely pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS2107526347 Health Risk Likely pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS2471246828 Health Risk Likely pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS1057519128 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS1057519129 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS1176521918 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS1212229943 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS1268679971 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS1274699363 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS1300427865 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS1368453406 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS1369933918 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS1426709672 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS199655993 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS2092391598 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS2092396963 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS2092412254 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS2107525795 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS2107526111 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS2107526137 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS2107526351 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS2471248213 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS2471248566 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS724159964 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS724159965 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS727502797 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS757259401 Health Risk Pathogenic —
RS768893872 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS773282804 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS778840325 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS969633376 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS727502799 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS769824247 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 10, LMOD3-related disorder, Nemaline myopathy 10
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