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 (13.48)
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	19p13.2-p13.1	* Episodic ataxia, type 2 - EA2 (7.9, 7.10, 13.6, 13.30, 13.35) * Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA (7.9, 7.10, 13.6, 13.30, 13.35) * Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA (7.9, 7.10, 13.6, 13.30, 13.35) * Migraine familial hemiplegic 1, with progressive cerebellar ataxia - MHP1 (7.9, 7.10, 13.6, 13.30, 13.35) * Hemiplegic migraine, familial - FHM1 (7.9, 7.10, 13.6, 13.30, 13.35) * Spinocerebellar ataxia 6 - SCA6 (7.9, 7.10, 13.6, 13.30, 13.35) * Cerebellar ataxia, pure - CACNA1A (7.9, 7.10, 13.6, 13.30, 13.35)
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit	12p13.3	* Timothy syndrome - LQT8 (10.113, 10.94) * brugada syndrome 3 - (10.113, 10.94)
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit	1q32	* Hypokalemic periodic paralysis - CACNL1A3 (7.8, 8.5) * Hypokalaemic periodic paralysis, type 1 - hypoKPP1 (7.8, 8.5) * Malignant hyperthermia susceptibility 5 - MHS5 (7.8, 8.5)
CACNB2 calcium channel, voltage-dependent, beta 2 subunit	10p12	* brugada syndrome 4 - (10.114)
CACNB4 calcium channel, voltage-dependent, beta 4 subunit	2q22-q23	* episodic ataxia type 5, included - EA5 (13.32)
CAPN3 calpain 3	15q15.1-q21.1	* Muscular dystrophy, limb-girdle, type 2A - LGMD2A (1.19)
CASQ2 calsequestrin 2 (cardiac muscle)	1p13.3-p11	* ventricular tachycardia, catecholaminergic polymorphi - CPVT (10.85)
CAV3 caveolin 3	3p25	* Distal myopathy with caveolin defect - (1.13, 4.11, 5.17, 6.6, 6.7, 10.16, 10.95) * Long QT syndrome 9 - LQT9 (1.13, 4.11, 5.17, 6.6, 6.7, 10.16, 10.95) * Hyperckemia, idiopathic - (1.13, 4.11, 5.17, 6.6, 6.7, 10.16, 10.95) * Creatine phosphokinase, elevated serum - CPK (1.13, 4.11, 5.17, 6.6, 6.7, 10.16, 10.95) * cardiomyopathy, familial hypertrophic - CMH (1.13, 4.11, 5.17, 6.6, 6.7, 10.16, 10.95) * Rippling muscle disease - RMD2 (1.13, 4.11, 5.17, 6.6, 6.7, 10.16, 10.95) * Muscular dystrophy, limb-girdle, type IC - LGMD1C (1.13, 4.11, 5.17, 6.6, 6.7, 10.16, 10.95)
CFL2 cofilin 2 (muscle)	14q12	* Nemaline myopathy - NEM7 (3.8)
CHAT choline acetyltransferase isoform	10q11.2	* Myasthenia gravis, autosomal recessive - MGI (11.12) * Myasthenia gravis, familial infantile - FIMG (11.12) * Congenital myasthenic syndrome with choline acetyltransferase deficiency - CMS-EA (11.12) * Myasthenia gravis, familial infantile, 2 - FIMG2 (11.12)
CHKB choline kinase beta	22q13	* Congenital muscle dystrophy with mitochondrial structural abnormalities - MDCMC (2.28)
CHRNA1 cholinergic receptor, nicotinic, alpha polypeptide 1	2q24-q32	* Myasthenic syndrome, slow-channel congenital - SCCMS (11.1, 11.5) * Myasthenic syndrome, fast-channel congenital - FCCMS (11.1, 11.5)
CHRNB1 cholinergic receptor, nicotinic, beta 1 muscle	17p13.1	* Myasthenic syndrome, slow-channel congenital - SCCMS (11.2, 11.8) * Myasthenic syndrome, congenital, Ie, included - CMS1E (11.2, 11.8)
CHRND cholinergic receptor, nicotinic, delta	2q33-q34	* Myasthenic syndrome, slow-channel congenital - SCCMS (11.3, 11.6, 11.9) * Myasthenic syndrome, fast-channel congenital - FCCMS (11.3, 11.6, 11.9)
CHRNE cholinergic receptor, nicotinic, epsilon	17p13-p12	* Myasthenic syndrome, slow-channel congenital - SCCMS (11.4, 11.7, 11.10) * Myasthenic syndrome, fast-channel congenital - FCCMS (11.4, 11.7, 11.10)
CHRNG cholinergic receptor, nicotinic, gamma polypeptide	2q33-q34	* Escobar syndrome (multiple pterygium syndrome) - CHRNG (11.21)
CLCN1 chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)	7q35	* Myotonia congenita, autosomal dominant, Thomsen disease - THD (6.3, 6.4, 7.1, 7.2) * Myotonia congenita, autosomal recessive, Becker disease - MCR (6.3, 6.4, 7.1, 7.2) * Myotonia recessive - CLC1 (6.3, 6.4, 7.1, 7.2)
CNTN1 contactin-1	12q11-q12	* congenital lethal myopathy - (3.33)
COL6A1 alpha 1 type VI collagen	21q22.3	* Bethlem myopathy - (2.16, 2.19) * Ullrich congenital muscular dystrophy - UCMD (2.16, 2.19)
COL6A2 alpha 2 type VI collagen	21q22.3	* Bethlem myopathy - (2.17, 2.20, 2.22, 2.23) * Ullrich scleroatonic muscular dystrophy - UCMD (2.17, 2.20, 2.22, 2.23) * myosclerosis, autosomal recessive - (2.17, 2.20, 2.22, 2.23)
COL6A3 alpha 3 type VI collagen	2q37	* Bethlem myopathy - (2.18, 2.21) * Ullrich congenital muscular dystrophy - UCMD (2.18, 2.21)
COLQ acetylcholinesterase collagen-like tail subunit	3p25	* Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD (11.13)
COX15 COX15 homolog, cytochrome c oxidase assembly protein (yeast)	10q24	* Cardiomyopathy, hypertrophic, early-onset fatal - (10.17)
CPT2 carnitine palmitoyltransferase II	1p32	* Myopathy due to CPT II deficiency - CPT2 (9.15) * CPT deficiency, hepatic, type II - CPT2 (9.15) * Hypoglycemia hypoketonic, with deficiency of carnitine palmitoyltransferase II - CPTase (9.15)
CRYAB crystallin, alpha B	11q22.3-q23.1	* Dilated cardiomyopathy, with alpha-crystallin defect - (5.1, 10.51) * Myofibrillar myopathy, alpha-B crystallin related - (5.1, 10.51) * Myopathy, myofibrillar, 2 - MFM2 (5.1, 10.51)
CSRP3 Cysteine and glycine-rich protein 3 (cardiac LIM protein)	11p15.1	* Cardiomyopathy, dilated, 1M - CMD1M (10.11, 10.39) * Cardiomyopathy, familial hypertrophic, 12 - CMH12 (10.11, 10.39)
CTDP1 CTD phosphatase subunit 1	18q23	* congenital cataracts, facial dysmorphism, and neuropathy - CCFDN (14.66)
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1	8p12-q13	* Spastic paraplegia 5A - SPG5A (15.19)