Inheritance	Disease phenotype	Key references	Gene symbol (chromosome) protein
AD	Acetazolamide responsive hereditary paroxysmal cerebellar ataxia	7695228 7757080	CACNA1A (19p13.2-p13.1) calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
AD	Acetazolamide responsive hereditary paroxysmal cerebellar ataxia	7695228 7757080	CACNA1A (19p13.2-p13.1) calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
AD	Adult onset distal myopathy	15036327	? - (8p22-q11)
AD	Andersen-Tawill syndrome cardiodysrythmic periodic paralysis	11371347	KCNJ2 (17q23) potassium inwardly-rectifying channel J2
AD	Arrhythmogenic right ventricular dysplasia, 1	15639475 7951245	TGFB3 (14q24.3) transforming growth factor, beta 3
AD	Arrhythmogenic right ventricular dysplasia, 10	1677357	DSG2 (18q12.1) desmoglein 2
AD	Arrhythmogenic right ventricular dysplasia, 11	17033975	DSC2 (18q12.1) desmocollin 2
AD	Arrhythmogenic right ventricular dysplasia, 12	17924338	JUP (17q21) junction plakoglobin
AD	Arrhythmogenic right ventricular dysplasia, 2	11159936 7951245	RYR2 (1q42.1-q43) ryanodine receptor 2
AD	Arrhythmogenic right ventricular dysplasia, 3	8824801	? - (14q12-q22)
AD	Arrhythmogenic right ventricular dysplasia, 4	9344647	? - (2q32.1-q32.3)
AD	Arrhythmogenic right ventricular dysplasia, 5	18313022 9860777	TMEM43 (3p25.1) transmembrane protein 43
AD	Arrhythmogenic right ventricular dysplasia, 6	10631146	? - (10p14-p12)
AD	Atrial fibrillation	16790700	GJA5 (1q21.1) connexin 40
AD	Atrial fibrillation, 1	9070470	? - (10q22-q24)
AD	Atrial fibrillation, 2	12782570	? - (10q22-q24)
AD	Atrial fibrillation, 3	12782570	KCNQ1 (11p15.5) potassium voltage-gated channel, KQT-like subfamily, member 1
AD	Atrial fibrillation, 4	16790700	KCNE2 (21q22.12) potassium voltage-gated channel, Isk-related family, member 2
AD	Atrial fibrillation, 5	17603472	? - (4q25)
AD	Atrial fibrillation, 6	18614783	NPPA (1p36) natriuretic peptide precursor A
AD	Atrial fibrillation, 7	16772329 19343045	KCNA5 (12p13) potassium voltage-gated channel, shaker-related subfamily, member 5
AD	Atrial fibrillation, 8	19597491 19597492	? - (16q22)
AD	Atrial standstill	12522116	GJA5 (1q21.1) connexin 40
AD	Autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement (Edstrom myopathy)	10053013 15802564	TTN (2q31) titin
AD	Autosomal dominant spastic ataxia 1	11774073	? - (12p13)
AD	Bethlem myopathy	8782832	COL6A1 (21q22.3) alpha 1 type VI collagen
AD	Bethlem myopathy	8817344 9536084	COL6A3 (2q37) alpha 3 type VI collagen
AD	Bethlem myopathy	8782832	COL6A2 (21q22.3) alpha 2 type VI collagen
AD	Brugada syndrome 1	10590249 10690282	SCN5A (3p21) voltage-gated sodium channel type V alpha
AD	Brugada syndrome 2	11839626 17967976 17967977	GPD1L (3p22.3) glycerol-3-phosphate dehydrogenase 1-like
AD	Brugada syndrome 3	17224476	CACNA1C (12p13.3) calcium channel, voltage-dependent, L type, alpha 1C subunit
AD	Brugada syndrome 4	17224476	CACNB2 (10p12) calcium channel, voltage-dependent, beta 2 subunit
AD	Cap myopathy	17372140 17434307	TPM2 (9p13) tropomyosin 2 (beta)
AD	Cap myopathy	19487656 19553118	TPM3 (1q21.2) tropomyosin 3
AD	Cap myopathy	20303757	ACTA1 (1q42.1) alpha actin, skeletal muscle
AD	Central core disease, dominant	12124989 1889818 8220422 8220423	RYR1 (19q13.1) ryanodine receptor 1 (skeletal)
AD	Centronuclear myopathy, dominant	16227997	DNM2 (19p13.2) dynamin 2
AD	Charcot-Marie-Tooth neuropathy Type 1A, demyelinating	1303228 1303230 1303231 2220808 2707366 8275092	PMP22 (17p12-p11.2) peripheral myelin protein 22
AD	Charcot-Marie-Tooth neuropathy Type 1B, demyelinating	6952764 6954871 7506095 7693130	MPZ (1q22) myelin protein zero
AD	Charcot-Marie-Tooth neuropathy Type 1C	11713717 12525712	LITAF (16p13.3-p12) lipopolysaccharide-induced TNF factor
AD	Charcot-Marie-Tooth neuropathy Type 1D	9537424	EGR2 (10q21.1) early growth response 2 protein
AD	Charcot-Marie-Tooth neuropathy Type 1E (with deafness)	10330345 11835375	PMP22 (17p12-p11.2) peripheral myelin protein 22
AD	Charcot-Marie-Tooth neuropathy Type 1F	12566280	NEFL (8p21) neurofilament, light polypeptide 68kDa
AD	Charcot-Marie-Tooth neuropathy Type 2A1	1733853	KIF1B (1p36.2) kinesin family member 1B
AD	Charcot-Marie-Tooth neuropathy Type 2A2	15064763 8406488	MFN2 (1p36.22) mitofusin 2
AD	Charcot-Marie-Tooth neuropathy Type 2B	10732809 12870133 7573046	RAB7 (3q21) member RAS oncogene family
AD	Charcot-Marie-Tooth neuropathy Type 2C	12682323 15668982 20037586 20037587 20037588	TRPV4 (12q23-q24) transient receptor potential cation channel, subfamily V, member 4
AD	Charcot-Marie-Tooth neuropathy Type 2D	8872480	GARS (7p15) glycyl-tRNA synthetase
AD	Charcot-Marie-Tooth neuropathy Type 2E	10841809 12393795 12481988	NEFL (8p21) neurofilament, light polypeptide 68kDa
AD	Charcot-Marie-Tooth neuropathy Type 2F	11528513 15122254	HSPB1 (7q11.23) heat shock 27kDa protein 1
AD	Charcot-Marie-Tooth neuropathy Type 2G	14985381	? - (12q12-q13)
AD	Charcot-Marie-Tooth neuropathy Type 2H	11166163	? - (8q21.3)
AD	Charcot-Marie-Tooth neuropathy Type 2I (late onset)	14638973	MPZ (1q22) myelin protein zero
AD	Charcot-Marie-Tooth neuropathy Type 2J (with hearing loss and pupillary abnormality)	10071056 10329755	MPZ (1q22) myelin protein zero
AD	Charcot-Marie-Tooth neuropathy Type 2L	15021985 15565283	HSPB8 (12q24.23) heat shock 27kDa protein 8
AD	Charcot-Marie-Tooth neuropathy Type 2N	20045102	AARS (16q22.1) alanyl-tRNA synthetase
AD	Charcot-Marie-Tooth neuropathy Type 2O	21820100	DYNC1H1 (14q32.31) dynein, cytoplasmic 1, heavy chain 1
AD	Charcot-Marie-Tooth neuropathy, dominant intermediate A	11533914	? - (10q24.1-q25.1)
AD	Charcot-Marie-Tooth neuropathy, dominant intermediate B	15731758	DNM2 (19p13.2) dynamin 2
AD	Charcot-Marie-Tooth neuropathy, dominant intermediate C	14606043 16429158	YARS (1p35.1) tyrosyl-tRNA synthetase
AD	Charcot-Marie-Tooth neuropathy, dominant intermediate D	10406984	MPZ (1q22) myelin protein zero
AD	Charcot-Marie-Tooth neuropathy, with fibulin defect	21576112	FBLN5 (14q32.12) Fibulin 5 (extra-cellular matrix)
AD	CMT with Congenital vertical talus	15146389	HOXD10 (2q31.1) homeobox D10
AD	Congenital fibrosis of the extraocular muscles	15621876 8075644	KIF21A (12q12) kinesin family member 21A
AD	Congenital fibrosis of the extraocular muscles	10393037 20074521	TUBB3 (16q24) tubulin, beta 3
AD	Congenital muscular dystrophy with dynamin 2 defect	meeting.ab	DNM2 (19p13.2) dynamin 2
AD	Dejerine-Sottas hypertrophic neuropathy, dominant	8275092	PMP22 (17p12-p11.2) peripheral myelin protein 22
AD	Dejerine-Sottas hypertrophic neuropathy, dominant	7506095	MPZ (1q22) myelin protein zero
AD	Desmin-related myopathy with Mallory bodies	15122708	SEPN1 (1p36.13) Selenoprotein N1
AD	Dilated cardiomyopathy due to alpha-myosin heavy chain defect	15998695	MYH6 (14q12) myosin heavy chain 6
AD	Dilated cardiomyopathy due to cardiac ankyrin repeat protein defect	19525294 19608030	ANKRD1 (10q23.33) ankyrin repeat domain 1 (cardiac muscle)
AD	Dilated cardiomyopathy due to cardiac troponin I defect	19590045	TNNI3 (19q13.4) troponin I, cardiac
AD	Dilated cardiomyopathy due to integrin-linked kinase defect	17646580	ILK (11p15.5-p15.4) integrin-linked kinase
AD	Dilated cardiomyopathy due to laminin-alpha4 defect	17646580	LAMA4 (6q21) laminin alpha 4
AD	Dilated cardiomyopathy due to myopalladin defect	18006477	MYPN (10q21.1) myopalladin
AD	Dilated cardiomyopathy due to nexilin defect	19881492	NEXN (1p32-p31 ) Nexilin(F-actin binding protein)
AD	Dilated cardiomyopathy due to ribonucleic acid binding protein defect	19712804	RBM20 (10q25.3) RNA binding motif protein 20
AD	Dilated cardiomyopathy with alpha-crystallin defect	16483541	CRYAB (11q22.3-q23.1) crystallin, alpha B
AD	Dilated cardiomyopathy with MURC defect	21642240	MURC (9q11.1) muscle-related coiled-coil protein
AD	Dilated cardiomyopathy with MYBPC3 defect	20215591	MYBPC3 (11p11.2) cardiac myosin binding protein-C
AD	Dilated cardiomyopathy with nesprin-1 defect	19944109	SYNE1 (6q25) spectrin repeat containing, nuclear envelope 1 (nesprin 1)
AD	Dilated cardiomyopathy, 1A	10580070	LMNA (1q21.2-q21.3) lamin A/C
AD	Dilated cardiomyopathy, 1AA	14567970	ACTN2 (1q42-q43) actinin alpha2
AD	Dilated cardiomyopathy, 1B	7573045	? - (9q13)
AD	Dilated cardiomyopathy, 1C	14660611 14662268 8823300	LDB3 (10q22) LIM domain binding 3
AD	Dilated cardiomyopathy, 1D	11106718 8521556	TNNT2 (1q32) troponin T2, cardiac
AD	Dilated cardiomyopathy, 1E with conduction disorder and arrythmia	15466643	SCN5A (3p21) voltage-gated sodium channel type V alpha
AD	Dilated cardiomyopathy, 1F	9382102	? - (6q23)
AD	Dilated cardiomyopathy, 1G	10051295 11788824 11846417	TTN (2q31) titin
AD	Dilated cardiomyopathy, 1H	10486326	? - (2q14-q22)
AD	Dilated cardiomyopathy, 1I	10430757	DES (2q35) desmin
AD	Dilated cardiomyopathy, 1J	15735644	EYA4 (6q23-24) eyes absent 4
AD	Dilated cardiomyopathy, 1K	11085912	? - (6q12-q16)
AD	Dilated cardiomyopathy, 1L	10974018	SGCD (5q33-q34) delta-sarcoglycan
AD	Dilated cardiomyopathy, 1M	12507422	CSRP3 (11p15.1) Cysteine and glycine-rich protein 3 (cardiac LIM protein)
AD	Dilated cardiomyopathy, 1N	12507422	TCAP (17q12) telethonin
AD	Dilated cardiomyopathy, 1O	15034580	ABCC9 (16p13.1) ATP-binding cassette, sub-family C (member 9)
AD	Dilated cardiomyopathy, 1P	12610310 12639993 6432188	PLN (6q22.1) phospholamban
AD	Dilated cardiomyopathy, 1Q	16228230	? - (7q22.3-q31.1)
AD	Dilated cardiomyopathy, 1R	10330430 9563954	ACTC1 (15q11-q14) actin, alpha, cardiac muscle precursor
AD	Dilated cardiomyopathy, 1S	11106718	MYH7 (14q12) myosin, heavy polypeptide 7, cardiac muscle, beta
AD	Dilated cardiomyopathy, 1T	16247757	TMPO (12q22) lamina-associated polypeptide 2
AD	Dilated cardiomyopathy, 1U	17186461	PSEN2 (1q42.13)
AD	Dilated cardiomyopathy, 1W	11815424	VCL (10q22.1-q23) vinculin
AD	Dilated cardiomyopathy, 1Y	11273725	TPM1 (15q22) tropomyosin 1 (alpha)
AD	Dilated cardiomyopathy, 1Z	15542288	TNNC1 (3p21.3-p14.3) slow troponin C
AD	Distal arthrogryposis type 1	12592607	TPM2 (9p13) tropomyosin 2 (beta)
AD	Distal arthrogryposis type 2A, Freeman-Sheldon syndrome	12592607	MYH3 (17p13) myosine, heavy chain 3, skeletal muscle, embryonic
AD	Distal arthrogryposis type 2B, Sheldon-Hall syndrome	12592607 16924011	TNNI2 (11p15.5) troponin I, type 2
AD	Distal arthrogryposis type 2B, Sheldon-Hall syndrome	12865991	TNNT3 (11p15.5) troponin T3, skeletal
AD	Distal arthrogryposis type 2B, Sheldon-Hall syndrome	12592607	MYH3 (17p13) myosine, heavy chain 3, skeletal muscle, embryonic
AD	Distal arthrogryposis type 2B, Sheldon-Hall syndrome	17339586 17430991	TPM2 (9p13) tropomyosin 2 (beta)
AD	Distal hereditary motor neuronopathy type VIIB	12627231	DCTN1 (2p13) dynactin 1
AD	Distal myopathy (Laing)	12062252 15322983 7847377	MYH7 (14q12) myosin, heavy polypeptide 7, cardiac muscle, beta
AD	Distal myopathy with caveolin defect	11805270 15580566	CAV3 (3p25) caveolin 3
AD	Distal myopathy with myotilin defect	16793270 9829275	MYOT (5q31) myotilin
AD	Distal myopathy with pes cavus and areflexia (Vacuolar neuromyopathy)	10489050	? - (19p13)
AD	Distal myopathy with VCP defect	-	VCP (9p13-p12) valosin-containing protein
AD	Distal neuronopathy with pyramidal tract signs	18336586	? - (4q34-q35)
AD	Distal spinal muscular atrophy type V	14981520	BSCL2 (11q12-q13.5) seipin
AD	Distal spinal muscular atrophy, distal with upper limb predominance (type V)	12690580 8541851	GARS (7p15) glycyl-tRNA synthetase
AD	Dynamin2 related distal myopathy	16585051	DNM2 (19p13.2) dynamin 2
AD	Early onset distal myopathy with KLHL9 mutations	20554658	KLHL9 (9p21.2-p22.3) kelch-like homologue 9
AD	Emery-Dreifuss muscular dystrophy, autosomal dominant	10080180 10739764	LMNA (1q21.2-q21.3) lamin A/C
AD	Enolase deficiency	11506403	ENO3 (17pter-p11) enolase 3, beta muscle specific
AD	Episodic ataxia type-1 , with myokimia	17575281 7842011 8845167	KCNA1 (12p13) potassium voltage-gated channel, shaker-related subfamily, member 1
AD	Episodic ataxia type-2	8898206 9302278	CACNA1A (19p13.2-p13.1) calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
AD	Episodic ataxia type-2 ,and familial hemiplegic migraine	17575281 8898206 9302278	CACNA1A (19p13.2-p13.1) calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
AD	Episodic ataxia type-3	11673600 17575281	? - (1q42)
AD	Episodic ataxia type-5	10762541	CACNB4 (2q22-q23) calcium channel, voltage-dependent, beta 4 subunit
AD	Episodic ataxia type-6	16116111 19139306	SLC1A3 (5p13) EAAT1 (excitatory amino acid transporter type 1)
AD	Episodic ataxia type-7	17502476	? - (19q13)
AD	Episodic ataxia/myokymia	7842011	KCNA1 (12p13) potassium voltage-gated channel, shaker-related subfamily, member 1
AD	Facio-scapulo-humeral muscular dystrophy	12176321 1363881 15674778 16341202 1642238 16632607 1975852 1978143 2037288 20724583 7903581 8111371 8268920	DUX4 (4q35) double homeobox 4
AD	Familial amyloid neuropathy	6651852 7599630	TTR (18q12.1) transthyretin (prealbumin, amyloidosis type I)
AD	Familial amyotrophic lateral sclerosis	2020294 8446170 8875253	SOD1 (21q22.1) superoxide dismutase 1, soluble
AD	Familial amyotrophic lateral sclerosis	9933301	? - (15q15-q21)
AD	Familial amyotrophic lateral sclerosis	12830400 12858291 19251627 19251628	FUS (16q12) fusion (involved in t(12;16) in malignant liposarcoma)
AD	Familial amyotrophic lateral sclerosis	15106121 9497266	SETX (9q34.13) senataxin
AD	Familial amyotrophic lateral sclerosis	12858291	? - (20p13)
AD	Familial amyotrophic lateral sclerosis	15060112 15372378	VAPB (7p15) vesicle-associated membrane protein-associated protein B and C
AD	Familial amyotrophic lateral sclerosis	16501576 17886298	ANG (14q11.2) angiogenin
AD	Familial amyotrophic lateral sclerosis	18309045	TARDBP (1p36.2) TAR DNA binding protein
AD	Familial hypertrophic cardiomyopathy, 1	1975475 2144212 2811944	MYH6 (14q12) myosin heavy chain 6
MYH6 (14q12) myosin heavy chain 6
MYH7 (14q12) myosin, heavy polypeptide 7, cardiac muscle, beta
AD	Familial hypertrophic cardiomyopathy, 10	8673105	MYL2 (12q23-q24.3) myosin light chain 2
AD	Familial hypertrophic cardiomyopathy, 11	10330430	ACTC1 (15q11-q14) actin, alpha, cardiac muscle precursor
AD	Familial hypertrophic cardiomyopathy, 12	18505755	CSRP3 (11p15.1) Cysteine and glycine-rich protein 3 (cardiac LIM protein)
AD	Familial hypertrophic cardiomyopathy, 13	18572189	TNNC1 (3p21.3-p14.3) slow troponin C
AD	Familial hypertrophic cardiomyopathy, 14	15998695	MYH6 (14q12) myosin heavy chain 6
AD	Familial hypertrophic cardiomyopathy, 2	7493025 7889574 7981753 8205619 8528244	TNNT2 (1q32) troponin T2, cardiac
AD	Familial hypertrophic cardiomyopathy, 3	8205619	TPM1 (15q22) tropomyosin 1 (alpha)
AD	Familial hypertrophic cardiomyopathy, 4	7493025 7493026 8358441	MYBPC3 (11p11.2) cardiac myosin binding protein-C
AD	Familial hypertrophic cardiomyopathy, 6	11371514	PRKAG2 (7q31) protein kinase, AMP-activated, gamma 2 non-catalytic subunit
AD	Familial hypertrophic cardiomyopathy, 7	9241277	TNNI3 (19q13.4) troponin I, cardiac
AD	Familial hypertrophic cardiomyopathy, 8	8673105	MYL3 (3p21.3-p21.2) myosin light chain 3
AD	Familial hypertrophic cardiomyopathy, 9	10462489	TTN (2q31) titin
AD	Fibrodysplasia ossificans progressiva	16642017	ACVR1 (2q23-q24) activin A receptor, type II-like kinase 2
AD	Filamin C related distal myopathy	21620354	FLNC (7q32) filamin C, gamma (actin-binding protein - 280)
AD	Glycogen storage disease of heart, lethal congenital	15877279	PRKAG2 (7q31) protein kinase, AMP-activated, gamma 2 non-catalytic subunit
AD	Hereditary motor and sensory neuropathy, Okinawa type	10545038 17906970 9189038	? - (3q13.1)
AD	Hereditary neuralgic amyotrophy (familial brachial plexus neuropathy)	8780104	SEPT9 (17q25) septin 9
AD	Hereditary Neuropathy with Liability to Pressure Palsies	8012388 8112739 8422677	PMP22 (17p12-p11.2) peripheral myelin protein 22
AD	Hereditary sensory and autonomic neuropathy type I	11242106 11242114 8673084	SPTLC1 (9q22.2) serine palmitoyltransferase subunit 1
AD	Hereditary sensory and autonomic neuropathy type I	20920666	SPTLC2 (14q24.3) serine palmitoyltransferase long chain base subunit 2
AD	Hereditary sensory and autonomic neuropathy type IB with cough and gastroesophageal reflux	12870133	? - (3p24-p22)
AD	Hereditary sensory neuropathy type ID	21194679	ATL1 (14q22.1) atlastin GTPase 1
AD	Hereditary sensory neuropathy with dementia and hearing loss	21532572	DNMT1 (19p13.2) DNA (cytosine-5)-methyltransferase 1
AD	Hereditary sensory neuropathy, type IIC	21820098	KIF1A (2q37.3) kinesin family member 1A
AD	Hyaline body myopathy,dominant (myosin storage myopathy)	14520662 15136674 15699387	MYH7 (14q12) myosin, heavy polypeptide 7, cardiac muscle, beta
AD	Hyperckemia, idiopathic	10746614	CAV3 (3p25) caveolin 3
AD	Hyperkalemic periodic paralysis	1654742 1659668 1659948 2173143 8058156	SCN4A (17q23-q25.3) sodium channel, voltage-gated, type IV, alpha
AD	Hypertrophic cardiomyopathy with actinin-2 defect	20022194	ACTN2 (1q42-q43) actinin alpha2
AD	Hypertrophic cardiomyopathy with cardiac ankyrin repeat domain protein defect	19608031	ANKRD1 (10q23.33) ankyrin repeat domain 1 (cardiac muscle)
AD	Hypertrophic cardiomyopathy with myozenin 2 defect	17347475	MYOZ2 (4q26) myozenin 2, or calsarcin 1, a Z disk protein
AD	Hypertrophic cardiomyopathy with nexilin defect	20970104	NEXN (1p32-p31 ) Nexilin(F-actin binding protein)
AD	Hypertrophic cardiomyopathy with junctophilin defect	17476457 17509612	JPH2 (20q13.12) junctophilin-2
AD	Hypertrophic cardiomyopathy with phospholamban defect	12705874 21167350	PLN (6q22.1) phospholamban
AD	Hypertrophic mitochondrial cardiomyopathy with NDUFAF1 defect	21931170	NDUFAF1 (15q15.1) NADH-ubiquinone oxidoreductase 1 alpha subcomplex
AD	Hypokalaemic periodic paralysis type 1	7847370 7987325 8012389	CACNA1S (1q32) calcium channel, voltage-dependent, L type, alpha 1S subunit
AD	Hypokalemic periodic paralysis type 2	10599760 10944223	SCN4A (17q23-q25.3) sodium channel, voltage-gated, type IV, alpha
AD	Hypokalemic periodic paralysis type 3	11207363	KCNE3 (11q13-q14) Potassium voltage-gated channel, Isk-related family, member 3
AD	Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia	15034582 16247064	VCP (9p13-p12) valosin-containing protein
AD	Late onset distal myopathy (Markesbery-Griggs)	17337483	LDB3 (10q22) LIM domain binding 3
AD	Limb-Girdle, Muscular dystrophy, type 1A	10958653 1598902	MYOT (5q31) myotilin
AD	Limb-Girdle, Muscular dystrophy, type 1B	10814726 9106535	LMNA (1q21.2-q21.3) lamin A/C
AD	Limb-Girdle, Muscular dystrophy, type 1C	9536092 9537420	CAV3 (3p25) caveolin 3
AD	Limb-Girdle, Muscular dystrophy, type 1D	9973293	DNAJB6 (7q36) HSP-40 homologue, subfamily B, number 6
AD	Limb-Girdle, Muscular dystrophy, type 1E	9382102	? - (6q23)
AD	Limb-Girdle, Muscular dystrophy, type 1F	1291321	? - (7q32)
AD	Limb-Girdle, Muscular dystrophy, type 1G	15367920	? - (4q21)
AD	Limb-Girdle, Muscular dystrophy, type 1H	20068593	? - (3p23-p25)
AD	Long QT syndrome (Romano-Ward syndrome)	7889574	SCN5A (3p21) voltage-gated sodium channel type V alpha
AD	Long QT syndrome (Romano-Ward syndrome)	7889573	KCNH2 (7q35-q36) voltage-gated potassium channel, subfamily H, member 2
AD	Long QT syndrome 1	8528244	KCNQ1 (11p15.5) potassium voltage-gated channel, KQT-like subfamily, member 1
AD	Long QT syndrome 2	7889573	KCNH2 (7q35-q36) voltage-gated potassium channel, subfamily H, member 2
AD	Long QT syndrome 3	7889574	SCN5A (3p21) voltage-gated sodium channel type V alpha
AD	Long QT syndrome 4	12571597 15178757 7485162	ANK2 (4q25-q27) ankyrin 2
AD	Long QT syndrome 5	9354783 9354802	KCNE1 (21q22.1-q22.2) potassium voltage-gated channel, Isk-related family, member 1
AD	Long QT syndrome 6	10219239	KCNE2 (21q22.12) potassium voltage-gated channel, Isk-related family, member 2
AD	Long QT syndrome 8 (Timothy syndrome)	15863612	CACNA1C (12p13.3) calcium channel, voltage-dependent, L type, alpha 1C subunit
AD	Long QT syndrome 9	17060380	CAV3 (3p25) caveolin 3
AD	LUMA related muscular dystrophy	21391237	TMEM43 (3p25.1) transmembrane protein 43
AD	Malignant hyperthermia susceptibility 1	1354642 1774074 1862346 1967823 2300206 7849712 8012359 8220423	RYR1 (19q13.1) ryanodine receptor 1 (skeletal)
AD	Malignant hyperthermia susceptibility 2	1427885 9508059	? - (17q11.2-q24)
AD	Malignant hyperthermia susceptibility 3	7951247	? - (7q21-q22)
AD	Malignant hyperthermia susceptibility 4	8395939	? - (3q13.1)
AD	Malignant hyperthermia susceptibility 5	9199552	CACNA1S (1q32) calcium channel, voltage-dependent, L type, alpha 1S subunit
AD	Malignant hyperthermia susceptibility 6	9175745	? - (5p)
AD	Muscular dystrophy with generalized lipodystrophy	19726876	PTRF (17q21-q23) polymerase I and transcript release factor
AD	Myoclonus-dystonia syndrome	1102201 11528394 16227522	SGCE (7q21-q22) sarcoglycan, epsilon
AD	Myofibrillar myopathy with arrythmogenic right ventricular cardiomyopathy	10553984 18197198	? - (10q22)
AD	Myofibrillar myopathy with BAG3 defect	19085932	BAG3 (10q25.2-q26.2) BCL2-associated athanogene 3
AD	Myofibrillar myopathy, alpha-B crystallin related	14681890 9731540	CRYAB (11q22.3-q23.1) crystallin, alpha B
AD	Myofibrillar myopathy, desmin-related myopathy	9697706	DES (2q35) desmin
AD	Myofibrillar myopathy, filamin-C related	15929027	FLNC (7q32) filamin C, gamma (actin-binding protein - 280)
AD	Myopathy myofibrillar	15111675	MYOT (5q31) myotilin
AD	Myopathy myofibrillar	15668942	LDB3 (10q22) LIM domain binding 3
AD	Myopathy, congenital, with fiber-type disproportion	10508519 14575234 15468086	ACTA1 (1q42.1) alpha actin, skeletal muscle
AD	Myopathy, congenital, with fiber-type disproportion	21288719	MYH7 (14q12) myosin, heavy polypeptide 7, cardiac muscle, beta
AD	Myosin lia myopathy, dominant (inclusion body myopathy)	10205275 11114175	MYH2 (17p13.1) myosin, heavy polypeptide 2, skeletal muscle
AD	Myotonia congenita , dominant (Thomsen)	1379744 7981750	CLCN1 (7q35) chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
AD	Myotonia, dominant (Thomsen disease)	1379744 2722193 7981750	CLCN1 (7q35) chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
AD	Myotonic dystrophy type 2	11486088 9620781	ZNF9 (3q21) zinc finger protein 9
AD	Myotonic, dystrophy (Steinert)	1346923 1346924 1346925 1546325 1546326 1568252 2881880 5149523	DMPK (19q13.3) myotonic dystrophy protein kinase
AD	Nemaline myopathy	1347195 7663526	TPM3 (1q21.2) tropomyosin 3
AD	Nemaline myopathy	10508519	ACTA1 (1q42.1) alpha actin, skeletal muscle
AD	Nemaline myopathy	11738357	TPM2 (9p13) tropomyosin 2 (beta)
AD	Nemaline myopathy	12805120 21109227	KBTBD13 (15q22.31) kelch repeat and BTB (POZ) domain containing 13
AD	Nesprin-1 related muscular dystrophy	17267447	SYNE1 (6q25) spectrin repeat containing, nuclear envelope 1 (nesprin 1)
AD	Nesprin-2 related muscular dystrophy	17267447	SYNE2 (14q23.2) spectrin repeat containing, nuclear envelope 2 (nesprin 2)
AD	Neuronopathy, distal hereditary motor, type I	17354000	? - (7q34-q36)
AD	Neuronopathy, distal hereditary motor, type II, adult juvenile	15122254	HSPB1 (7q11.23) heat shock 27kDa protein 1
AD	Neuronopathy, distal hereditary motor, type IIA, juvenile	15358725	HSPB8 (12q24.23) heat shock 27kDa protein 8
AD	Neuropathy, distal hereditary motor, type IIC	20142617	HSPB3 (5q11.2)
AD	Noncompaction of left ventricular myocardium with congenital heart defects	11238270	DTNA (18q12) dystrobrevin, alpha
AD	Oculopharyngeal muscular dystrophy	7795598 9462747	PABPN1 (14q11.2-q13) poly(A) binding protein, nuclear 1
AD	Paramyotonia congenita	1310898 1316765 1654742 1686388 8388676	SCN4A (17q23-q25.3) sodium channel, voltage-gated, type IV, alpha
AD	Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom	11207363 11371347 8845167	KCNJ2 (17q23) potassium inwardly-rectifying channel J2
AD	Potassium aggravated myotonia	1310531 8058156 8242056 8308722	SCN4A (17q23-q25.3) sodium channel, voltage-gated, type IV, alpha
AD	Potassium channel Long QT syndrome (Romano-Ward syndrome)	8528244	KCNQ1 (11p15.5) potassium voltage-gated channel, KQT-like subfamily, member 1
AD	Potassium channel Long QT syndrome (Romano-Ward syndrome)	9354802	KCNE2 (21q22.12) potassium voltage-gated channel, Isk-related family, member 2
AD	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4; PEOA4	16685652	POLG2 (17q24.1) mitochondrial DNA polymerase, accessory subunit
AD	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3;	11431692 9153451	PEO1 (10q23.3-q24.3) twinkle/twinky (mt DNA helicase)
AD	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2	10926541	SLC25A4 (4q35) mitochondrial carrier; adenine nucleotide translocator
AD	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1	11431686	POLG (15q25) polymerase (DNA directed), gamma
AD	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5	19664747	RRM2B (8q23.1) ribonucleotide reductase M2 B (TP53 inducible)
AD	Progressive external ophthalmoplegia, optic atrophy 1 with deafness	18065439 18158317	OPA1 (3q28-q29) mitochondrial dynamin-like GTPase
AD	Restrictive cardiomyopathy, 1	12531876	TNNI3 (19q13.4) troponin I, cardiac
AD	Rippling muscle disease	11431690 7936247	CAV3 (3p25) caveolin 3
AD	Rippling muscle disease	7936247	? - (1q41)
AD	Scapuloperoneal spinal muscular atrophy	20037587 8872481	TRPV4 (12q23-q24) transient receptor potential cation channel, subfamily V, member 4
AD	Short QT syndrome 1	14676148	KCNH2 (7q35-q36) voltage-gated potassium channel, subfamily H, member 2
AD	Short QT syndrome 2	15159330	KCNQ1 (11p15.5) potassium voltage-gated channel, KQT-like subfamily, member 1
AD	Short QT syndrome 3	15761194	KCNJ2 (17q23) potassium inwardly-rectifying channel J2
AD	Sick sinus syndrome, dominant	16407510	HCN4 (15q24.1) hyperpolarization activated cyclic nucleotide-gated potassium channel 4
AD	Slow channel syndromes	7619526 8872460 9158151	CHRNA1 (2q24-q32) cholinergic receptor, nicotinic, alpha polypeptide 1
AD	Slow channel syndromes	8651643 8872460	CHRNB1 (17p13.1) cholinergic receptor, nicotinic, beta 1 muscle
AD	Slow channel syndromes	11782989	CHRND (2q33-q34) cholinergic receptor, nicotinic, delta
AD	Slowed nerve conduction velocity	10520946 14508709 9678704	ARHGEF10 (8p23) Rho guanine nucleotide exchange factor 10
AD	Spastic paraplegia 10, autosomal dominant	10441583	KIF5A (12q13.13) kinesin family member 5A
AD	Spastic paraplegia 12, autosomal dominant	10677333 12427890	? - (19q13)
AD	Spastic paraplegia 13, autosomal dominant	10677329 18571143	HSPD1 (2q33.1) heat shock 60kDa protein 1 (chaperonin)
AD	Spastic paraplegia 17, autosomal dominant (Silver)	14981520	BSCL2 (11q12-q13.5) seipin
AD	Spastic paraplegia 19, autosomal dominant	12112072	? - (9q33-q34)
AD	Spastic paraplegia 29, autosomal dominant	16130112	? - (1p31-p21)
AD	Spastic paraplegia 3, autosomal dominant (Strumpell disease)	15517445 8252041	SPG3A (14q22.1) atlastin
AD	Spastic paraplegia 31, autosomal dominant	16565863 16826527	REEP1 (2p11.2) receptor accessory protein 1
AD	Spastic paraplegia 33, autosomal dominant	16826525	ZFYVE27 (10q24.2) protrudin
AD	Spastic paraplegia 36, autosomal dominant	19357379	? - (12q23-q24)
AD	Spastic paraplegia 37, autosomal dominant	17605047	? - (8p21.1-q13.3)
AD	Spastic paraplegia 38, autosomal dominant	18401025	? - (4p16-p15)
AD	Spastic paraplegia 4, autosomal dominant	7833913	SPAST (2p24-p21) spastin
AD	Spastic paraplegia 41, autosomal dominant	18364116	? - (11p14.1-p11.2)
AD	Spastic paraplegia 42, autosomal dominant	19061983	SLC33A1 (3q25.3) acetyl-Coenzyme A transporter acetyl-Coenzyme A transporter solute carrier family 33 (acetyl- CoA transporter)
AD	Spastic paraplegia 6, autosomal dominant	14508710 7825577	NIPA1 (15q11.2) non-imprinted in Prader-Willi/Angelman syndrome 1
AD	Spastic paraplegia 8, autosomal dominant	17160902 9973294	KIAA0196 (8q24.13) strumpellin
AD	Spastic paraplegia 9, autosomal dominant	9973297	? - (10q23.3-q24.1)
AD	Spheroid body myopathy	16380616	MYOT (5q31) myotilin
AD	Spinal cerebellarataxia 7 (olivopontocerebellar atrophy III)	7647798 7647799 9425222	ATXN7 (3p21.1-p12) ataxin 7
AD	Spinal muscular atrophy, distal, with vocal cord paralysis (Harper-Young)	11294660	? - (2q14)
AD	Spinocerebellar ataxia 1	2063871 7951322 8170557 8358429 857157	ATXN1 (6p23) ataxin 1
AD	Spinocerebellar ataxia 10	9973298	ATXN10 (22q13.31) ataxin 10
AD	Spinocerebellar ataxia 11	10417284 18037885	TTBK2 (15q15.2) tau tubulin kinase 2
AD	Spinocerebellar ataxia 12	10581021 11198281	PPP2R2B (5q31-5q32) protein phosphatase 2 regulatory subunit B, beta isoform
AD	Spinocerebellar ataxia 13	10820125 16501573	KCNC3 (19q13.3-q13.4) potassium voltage-gated channel, Shaw-related subfamily, member 3
AD	Spinocerebellar ataxia 14	10939565 12644968 15313841	PRKCG (19q13.4) protein kinase C, gamma
AD	Spinocerebellar ataxia 15	12828938 17590087	ITPR1 (3p26.1-p25.3) Inositol 1,4,5-triphosphate receptor type 1
AD	Spinocerebellar ataxia 17 (Huntington disease-like)	10484774 11313753	TBP (6q27) TATA box binding protein
AD	Spinocerebellar ataxia 18	11992570 19409521	IFRD1 (7q22-q32) Interferon-related developmental regulator 1
AD	Spinocerebellar ataxia 19	12384780 14679032	? - (1p21-q21)
AD	Spinocerebellar ataxia 2	1971152 8358438 8896555 8896556 8896557	ATXN2 (12q24.1) ataxin 2
AD	Spinocerebellar ataxia 20	14998916	? - (11p13)
AD	Spinocerebellar ataxia 21	12402269	? - (7p21-p15)
AD	Spinocerebellar ataxia 22	12764052	? - (1p21-q23)
AD	Spinocerebellar ataxia 24	-	? - (1p36)
AD	Spinocerebellar ataxia 25	14705117	? - ( 2p21-p13)
AD	Spinocerebellar ataxia 26	15732118	? - (19p13.3)
AD	Spinocerebellar ataxia 28	16251216 20208537	BEAN (16q21) Brain expressed, associated with Nedd42
AD	Spinocerebellar ataxia 29	15623688	? - (3p26)
AD	Spinocerebellar ataxia 3 (Machado-Joseph disease)	7874163 8279460 8358439	ATXN3 (14q24.3-q32.2) ataxin 3
AD	Spinocerebellar ataxia 31	10822439 19878914	BEAN (16q21) Brain expressed, associated with Nedd42
BEAN (16q21) Brain expressed, associated with Nedd42
TK2 (16q22-q23) Thymidine kinase 2, mitochondrial
AD	Spinocerebellar ataxia 4	12796826 8755926	? - (16q22.1)
AD	Spinocerebellar ataxia 5	16429157 7874171	SPTBN2 (11q13) spectrin, beta, non-erythrocytic 2
AD	Spinocerebellar ataxia 6	8988170 9302278	CACNA1A (19p13.2-p13.1) calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
AD	Spinocerebellar ataxia 8	10192387	ATXN8OS (13q21) ataxin 8 opposite strand
AD	Tibial muscular dystrophy (Udd myopathy)	11294923 12145747 9497249	TTN (2q31) titin
AD	Torsion dystonia, early onset	10541594 9288096	TOR1A (9q34) torsin A
AD	Trismus- pseudocamptodactyly	15282353 17041932	MYH8 (17p13) Myosin heavy chain, 8, skeletal muscle, perinatal
AD	Ventricular tachycardia, catecholaminergic polymorphic, dominant	10588221 11157710 11208676	RYR2 (1q42.1-q43) ryanodine receptor 2
AD	Vocal cord and pharyngeal distal myopathy	9837826	MATR3 (5q31) matrin 3
AD	Welander distal myopathy	10482271	? - (2p13)