MUSK Chromosome 9
Muscle associated receptor tyrosine kinase
Upload your DNA to see your personal genotypes for variants in MUSK.
What This Gene Does
This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
"Receptor tyrosine kinases|I-set domain containing|Immunoglobulin like domain containing"
Locus Type
gene with protein product
Location
9q31.3
Ensembl
ENSG00000030304
Associated Conditions (9)
Delayed gross motor development
Bilateral ptosis
Stridor
Respiratory insufficiency
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Inborn genetic diseases
MUSK-related disorder
Congenital myasthenic syndrome 4C
Key Variants
RS1057518966
Conflicting classifications of pathogenicity
Delayed gross motor development, Bilateral ptosis, Stridor
Health Risk
RS114362384
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
Health Risk
RS1311636142
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
Health Risk
RS1319203200
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, Inborn genetic diseases
Health Risk
RS138418494
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
Health Risk
RS139516442
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
Health Risk
RS146206123
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
Health Risk
RS1554757211
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
Health Risk
RS180928221
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
Health Risk
RS188840021
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
Health Risk
RS192173278
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
Health Risk
RS199476083
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, MUSK-related disorder
Health Risk
All Variants (107)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1412657094 | Health Risk | Likely pathogenic | Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 1 |
| RS1554757237 | Health Risk | Likely pathogenic | Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 1 |
| RS1587986079 | Health Risk | Likely pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS2076149627 | Health Risk | Likely pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS2131877883 | Health Risk | Likely pathogenic | Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 1 |
| RS2132026515 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9 |
| RS2490594673 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9 |
| RS2490595586 | Health Risk | Likely pathogenic | — |
| RS2490938188 | Health Risk | Likely pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS2490938695 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 9, Congenital myasthenic syndrome 9 |
| RS2491048213 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 9, Congenital myasthenic syndrome 9 |
| RS2491096235 | Health Risk | Likely pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS2491098868 | Health Risk | Likely pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS2491148034 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9 |
| RS2491213298 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 9, Congenital myasthenic syndrome 9 |
| RS387906803 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 9, Congenital myasthenic syndrome 9 |
| RS397515450 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 9, Congenital myasthenic syndrome 9 |
| RS532285449 | Health Risk | Likely pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS756877019 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 9, Congenital myasthenic syndrome 9 |
| RS757030913 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9 |
| RS775587809 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, MUSK-related disorder |
| RS1238400476 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS1255531873 | Health Risk | Pathogenic | Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9 |
| RS1395885868 | Health Risk | Pathogenic | Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9 |
| RS1416057660 | Health Risk | Pathogenic | Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9 |
| RS200783529 | Health Risk | Pathogenic | Congenital myasthenic syndrome 4C, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9 |
| RS2077841802 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS2131720596 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS2490470325 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS2490566466 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS2490567590 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS2490678140 | Health Risk | Pathogenic | Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9 |
| RS2491098000 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS2491104190 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS2491146787 | Health Risk | Pathogenic | Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9 |
| RS2491147739 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS2491151455 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS2491166486 | Health Risk | Pathogenic | Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9 |
| RS2491166668 | Health Risk | Pathogenic | Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9 |
| RS2491209605 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS2491209728 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS2491210783 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS2491211300 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS34580936 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS368395413 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS752798426 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS763656507 | Health Risk | Pathogenic | Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9 |
| RS765556063 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1 |
| RS777482709 | Health Risk | Pathogenic | Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9 |
| RS863223335 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 1 |