Gene symbol and protein	Gene Location	All allelic disease phenotypes - locus/disease symbols
CABC1 chaperone, ABC1 activity of bc1 complex homolog (S. pombe)	1q42.13	spinocerebellar ataxia, autosomal recessive 9 -SCAR9
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	19p13.2-p13.1	Episodic ataxia, type 2 -EA2 Acetazolamide-responsive hereditary paroxymal cerebellar ataxia -APCA Cerebellar ataxia, paroxymal, acetazolamide-responsive -CAPA Hemiplegic migraine, familial -FHM1 Migraine familial hemiplegic 1, with progressive cerebellar ataxia -MHP1 Spinocerebellar ataxia 6 -SCA6 Cerebellar ataxia, pure -CACNA1A
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit	12p13.3	timothy syndrome -LQT8 brugada syndrome 3 -
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit	1q32	Hypokalaemic periodic paralysis, type 1 -hypoKPP1 Hypokalemic periodic paralysis -CACNL1A3 Malignant hyperthermia susceptibility 5 -MHS5
CACNB2 calcium channel, voltage-dependent, beta 2 subunit	10p12	brugada syndrome 4 -
CACNB4	2q22-q23	episodic ataxia type 5, included -EA5
CAPN3 calpain 3	15q15.1-q21.1	Muscular dystrophy, limb-girdle, type 2A -LGMD2A
CASQ2 calsequestrin 2 (cardiac muscle)	1p13.3-p11	ventricular tachycardia, catecholaminergic polymorphi -CPVT
CAV3 caveolin 3	3p25	Creatine phosphokinase, elevated serum -CPK Hyperckemia, idiopathic -CAV3 cardiomyopathy, familial hypertrophic -CMH Rippling muscle disease -RMD2 Muscular dystrophy, limb-girdle, type IC -LGMD1C
CFL2 cofilin 2 (muscle)	14q12	Nemaline myopathy -NEM7
CHAT choline acetyltransferase isoform	10q11.2	Myasthenia gravis, familial infantile, 2 -FIMG2 Myasthenia gravis, familial infantile -FIMG Myasthenia gravis, autosomal recessive -MGI Congenital myasthenic syndrome with choline acetyltransferase deficiency -CMS-EA
CHRNA1 Acetylcholine receptor cholinergic receptor, nicotinic, alpha1 muscle	2q24-q32	Myasthenic syndrome, slow-channel congenital -SCCMS Myasthenic syndrome, fast-channel congenital -FCCMS
CHRNB1 cholinergic receptor, nicotinic, beta 1 muscle	17p13.1	Myasthenic syndrome, slow-channel congenital -SCCMS Myasthenic syndrome, congenital, Ie, included -CMS1E
CHRND cholinergic receptor, nicotinic, delta	2q33-q34	Myasthenic syndrome, slow-channel congenital -SCCMS Myasthenic syndrome, fast-channel congenital -FCCMS
CHRNE cholinergic receptor, nicotinic, epsilon	17p13-p12	Myasthenic syndrome, slow-channel congenital -SCCMS Myasthenic syndrome, fast-channel congenital -FCCMS
CHRNG cholinergic receptor, nicotinic, gamma polypeptide	2q33-q34	Escobar syndrome (multiple pterygium syndrome) -CHRNG
CLCN1 chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)	7q35	Myotonia congenita, autosomal dominant, Thomsen disease -THD Myotonia congenita, autosomal recessive, Becker disease -MCR Myotonia recessive -CLC1
CNTN1 contactin-1	12q11-q12	congenital lethal myopathy -
COL6A1 alpha 1 type VI collagen	21q22.3	Bethlem myopathy - Ullrich congenital muscular dystrophy -UCMD Ossification of the posterior longitudinal spinal ligaments -OPLL
COL6A2 alpha 2 type VI collagen	21q22.3	Bethlem myopathy - Ullrich scleroatonic muscular dystrophy -UCMD
COL6A3 alpha 3 type VI collagen	2q37	Bethlem myopathy - Ullrich congenital muscular dystrophy -UCMD
COLQ acetylcholinesterase collagen-like tail subunit	3p25	Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency -EAD
COX15 COX15 homolog, cytochrome c oxidase assembly protein (yeast)	10q24	Cardiomyopathy, hypertrophic, early-onset fatal -
CPT2 carnitine palmitoyltransferase II	1p32	Myopathy due to CPT II deficiency -CPT2 CPT deficiency, hepatic, type II -CPT2 Hypoglycemia hypoketonic, with deficiency of carnitine palmitoyltransferase II -CPTase
CRYAB crystallin, alpha B	11q22.3-q23.1	Cataract, posterior polar 2 -CRYA2 Myopathy, cardioskeletal, desmin-related, with cataract -CRYAB Desmin-related myopathy -DRM
CSRP3 Cysteine and glycine-rich protein 3 (cardiac LIM protein)	11p15.1	Cardiomyopathy, dilated, 1M -CMD1M
CTDP1 CTD phosphatase subunit 1	18q23	congenital cataracts, facial dysmorphism, and neuropathy -CCFDN