| Gene symbol |
Gene name |
Total variants |
Unique variants |
Patients |
| ACTA1 |
ACTin, Alpha 1 (skeletal muscle) |
375 |
220 |
350 |
| ACTC1 |
Actin, alpha, cardiac muscle 1 |
140 |
17 |
140 |
| AGRN |
Agrin |
32 |
24 |
7 |
| ANKRD1 |
Ankyrin repeat domain 1 (cardiac muscle) |
170 |
30 |
153 |
| ANO5 |
Anoctamin 5 |
334 |
68 |
183 |
| ARHGEF10 |
Rho guanine nucleotide exchange factor (GEF) 10 |
14 |
1 |
14 |
| ASAH1 |
N-acylsphingosine amidohydrolase (acid ceramidase) 1 |
19 |
2 |
13 |
| ATL1 |
Atlastin GTPase 1 |
13 |
2 |
12 |
| B3GALNT2 |
Beta-1,3-N-acetylgalactosaminyltransferase 2 |
26 |
9 |
19 |
| B3GNT1 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 |
26 |
2 |
10 |
| BAG3 |
BCL2-associated athanogene 3 |
20 |
10 |
20 |
| BANF1 |
Barrier to autointegration factor 1 |
38 |
5 |
9 |
| BIN1 |
Bridging INtegrator 1 |
70 |
38 |
13 |
| BSCL2 |
Berardinelli-Seip congenital lipodystrophy 2 (seipin) |
677 |
54 |
563 |
| CAPN3 |
Calpain-3 |
2828 |
481 |
1737 |
| CAV3 |
Caveolin-3 |
467 |
70 |
436 |
| CCDC78 |
Coiled-coil domain containing 78 |
5 |
1 |
5 |
| CCT5 |
Chaperonin containing TCP1, subunit 5 (epsilon) |
13 |
1 |
9 |
| CFL2 |
Cofilin 2 |
42 |
12 |
29 |
| CHAT |
Choline O-acetyltransferase |
100 |
35 |
58 |
| CHKB |
Choline kinase beta |
37 |
12 |
20 |
| CHRNA1 |
cholinergic receptor, nicotinic, alpha 1 (muscle) |
208 |
13 |
181 |
| CHRNB1 |
Cholinergic receptor, nicotinic, beta 1 (muscle) |
198 |
17 |
170 |
| CHRND |
Cholinergic receptor, nicotinic, delta |
194 |
20 |
169 |
| CHRNE |
Cholinergic receptor, nicotinic, epsilon |
416 |
78 |
246 |
| CNTN1 |
Contactin 1 |
8 |
1 |
4 |
| COL6A1 |
Collagen type VI alpha 1 |
243 |
146 |
215 |
| COL6A2 |
Collagen type VI alpha 2 |
256 |
131 |
144 |
| COL6A3 |
Collagen type VI alpha 3 |
338 |
140 |
160 |
| COLQ |
Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase |
211 |
59 |
103 |
| CRYAB |
Crystallin, alpha-B |
95 |
20 |
83 |
| CTDP1 |
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 |
0 |
0 |
0 |
| DAG1 |
Dystrophin-Associated Glycoprotein 1 |
134 |
29 |
109 |
| DCTN1 |
dynactin 1 |
0 |
0 |
0 |
| DES |
Desmin |
286 |
59 |
275 |
| DMD |
Duchenne Muscular Dystrophy |
25817 |
2866 |
24358 |
| DMD_d |
Duchenne Muscular Dystrophy (whole exon changes) |
9234 |
1341 |
8874 |
| DNAJB6 |
DnaJ (Hsp40) homolog, subfamily B, member 6 |
80 |
6 |
80 |
| DNM2 |
Dynamin 2 |
129 |
22 |
131 |
| DOK7 |
Docking protein 7 |
501 |
105 |
285 |
| DPM3 |
Dolichyl-Phosphate Mannosyltransferase polypeptide 3 |
5 |
3 |
3 |
| DTNA |
Dystrobrevin alpha |
1 |
1 |
1 |
| DUX4 |
Double homeobox 4 |
159 |
34 |
58 |
| DYSF |
Dysferlin |
2292 |
508 |
1330 |
| EGR2 |
early growth response 2 |
0 |
0 |
0 |
| EMD |
Emery-Dreifuss muscular dystrophy (emerin) |
222 |
106 |
227 |
| FAM134B |
family with sequence similarity 134, member B |
0 |
0 |
0 |
| FGD4 |
FYVE, RhoGEF and PH domain containing 4 |
0 |
0 |
0 |
| FHL1 |
Four and a Half LIM domains 1 |
70 |
20 |
70 |
| FIG4 |
FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) |
0 |
0 |
0 |
| FKRP |
Fukutin-Related Protein |
1007 |
154 |
517 |
| FKTN |
Fukutin |
577 |
68 |
360 |
| FLNC |
Filamin C |
38 |
5 |
53 |
| GAN |
Gigaxonin |
6 |
4 |
3 |
| GARS |
glycyl-tRNA synthetase |
107 |
21 |
100 |
| GDAP1 |
ganglioside induced differentiation associated protein 1 |
0 |
0 |
0 |
| GFPT1 |
Glutamine-fructose-6-phosphate transaminase 1 |
75 |
30 |
38 |
| GJB1 |
gap junction protein, beta 1, 32kDa |
0 |
0 |
0 |
| GK |
Glycerol Kinase |
176 |
34 |
117 |
| GNB4 |
Guanine nucleotide binding protein (G protein), beta polypeptide 4 |
11 |
2 |
11 |
| GNE |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
741 |
90 |
377 |
| GTDC2 |
Glycosyltransferase-like domain containing 2 |
14 |
3 |
10 |
| HSPB1 |
heat shock 27kDa protein 1 |
0 |
0 |
0 |
| HSPB3 |
heat shock 27kDa protein 3 |
0 |
0 |
0 |
| HSPB8 |
heat shock 22kDa protein 8 |
0 |
0 |
0 |
| IGHMBP2 |
Immunoglobulin mu binding protein 2 |
172 |
82 |
69 |
| IKBKAP |
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein |
0 |
0 |
0 |
| ISCU |
Iron-Sulfur cluster scaffold homolog (E. coli) |
72 |
2 |
38 |
| ISPD |
Isoprenoid synthase domain containing |
97 |
28 |
53 |
| ITGA7 |
Integrin, alpha 7 |
179 |
40 |
141 |
| KBTBD13 |
Kelch repeat and BTB (POZ) domain containing 13 |
59 |
8 |
59 |
| KIF1B |
kinesin family member 1B |
0 |
0 |
0 |
| KLHL40 |
Kelch-like family member 40 |
56 |
19 |
28 |
| LAMA2 |
Laminin-alpha 2 (merosin) |
1497 |
374 |
1033 |
| LAMP2 |
Lysosomal-associated membrane protein 2 |
97 |
6 |
95 |
| LARGE |
LARGE like-glycosyltransferase |
63 |
46 |
49 |
| LDB3 |
LIM domain binding 3 (ZASP) |
101 |
16 |
82 |
| LITAF |
lipopolysaccharide-induced TNF factor |
0 |
0 |
0 |
| LMNA |
Lamin A/C |
3846 |
303 |
1310 |
| MATR3 |
Matrin 3 |
123 |
3 |
69 |
| MFN2 |
Mitofusin 2 |
2 |
1 |
2 |
| MICU1 |
Mitochondrial calcium uptake 1 |
23 |
11 |
11 |
| MPZ |
Myelin protein zero |
2 |
1 |
2 |
| MSTN |
Myostatin |
312 |
26 |
275 |
| MTM1 |
Myotubularin 1 |
528 |
289 |
525 |
| MTMR14 |
Myotubularin related protein 14 |
36 |
29 |
36 |
| MTMR2 |
myotubularin related protein 2 |
0 |
0 |
0 |
| MUSK |
muscle, skeletal, receptor tyrosine kinase |
139 |
11 |
128 |
| MYBPC3 |
Myosin binding protein C, cardiac |
1 |
1 |
1 |
| MYH7 |
myosin, heavy chain 7, cardiac muscle, beta |
4 |
2 |
4 |
| MYL2 |
Myosin, light chain 2, regulatory, cardiac, slow |
80 |
29 |
76 |
| MYL3 |
Myosin, light chain 3, alkali; ventricular, skeletal, slow |
74 |
20 |
70 |
| MYOT |
Myotilin (Titin immunoglobulin domain) |
140 |
22 |
136 |
| MYOZ1 |
Myozenin 1 |
11 |
6 |
11 |
| MYOZ2 |
Myozenin 2 |
39 |
7 |
36 |
| MYOZ3 |
Myozenin 3 |
19 |
3 |
19 |
| MYPN |
Myopalladin |
1474 |
58 |
1445 |
| NDRG1 |
N-myc downstream regulated 1 |
0 |
0 |
0 |
| NEB |
Nebulin |
243 |
99 |
139 |
| NEFL |
Neurofilament, light polypeptide |
3 |
3 |
3 |
| NGF |
nerve growth factor (beta polypeptide) |
0 |
0 |
0 |
| NTRK1 |
neurotrophic tyrosine kinase, receptor, type 1 |
0 |
0 |
0 |
| PABPN1 |
PolyA binding protein, nuclear 1 |
520 |
23 |
508 |
| PDK3 |
Pyruvate dehydrogenase kinase, isozyme 3 |
26 |
5 |
26 |
| PDLIM3 |
PDZ and LIM domain 3 |
21 |
12 |
19 |
| PLEC |
Plectin |
67 |
43 |
55 |
| PLEKHG5 |
pleckstrin homology domain containing, family G (with RhoGef domain) member 5 |
0 |
0 |
0 |
| PMP22 |
Peripheral myelin protein 22 |
2 |
2 |
2 |
| POMGNT1 |
Protein O-linked Mannose beta1,2-N-acetylGlucosaminylTransferase |
242 |
73 |
136 |
| POMT1 |
Protein O-Mannosyltransferase 1 |
396 |
128 |
213 |
| POMT2 |
Protein O-Mannosyltransferase 2 |
156 |
82 |
96 |
| PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
0 |
0 |
0 |
| PRX |
periaxin |
0 |
0 |
0 |
| PTRF |
Polymerase I and Transcript Release Factor (cavin-1) |
42 |
3 |
34 |
| RAB7A |
RAB7A, member RAS oncogene family |
8 |
4 |
8 |
| RAPSN |
Receptor-associated protein of the synapse |
1008 |
65 |
395 |
| RYR1 |
RYanodine Receptor 1 (skeletal) |
2111 |
426 |
1926 |
| SBF2 |
SET binding factor 2 |
0 |
0 |
0 |
| SEPN1 |
Selenoprotein 1 |
1299 |
115 |
1091 |
| SEPT9 |
septin 9 |
0 |
0 |
0 |
| SETX |
senataxin |
12 |
12 |
12 |
| SGCA |
Sarcoglycan-alpha |
751 |
117 |
492 |
| SGCB |
Sarcoglycan-beta |
354 |
83 |
253 |
| SGCD |
Sarcoglycan-delta |
525 |
38 |
416 |
| SGCE |
Sarcoglycan-epsilon |
323 |
59 |
323 |
| SGCG |
Sarcoglycan-gamma |
966 |
107 |
676 |
| SGCZ |
Sarcoglycan-zeta |
16 |
14 |
56 |
| SH3TC2 |
SH3 domain and tetratricopeptide repeats 2 |
0 |
0 |
0 |
| SLC12A6 |
solute carrier family 12 (potassium/chloride transporters), member 6 |
0 |
0 |
0 |
| SMCHD1 |
Structural maintenance of chromosomes flexible hinge domain containing 1 |
31 |
14 |
59 |
| SMN1 |
Survival Motor Neuron 1 |
542 |
45 |
275 |
| SOX10 |
SRY (sex determining region Y)-box 10 |
0 |
0 |
0 |
| SPTLC1 |
serine palmitoyltransferase, long chain base subunit 1 |
0 |
0 |
0 |
| SPTLC2 |
serine palmitoyltransferase, long chain base subunit 2 |
0 |
0 |
0 |
| SSPN |
Sarcospan |
16 |
4 |
10 |
| SYNE1 |
Spectrin repeat containing, Nuclear Envelope 1 |
163 |
27 |
94 |
| SYNE2 |
Spectrin repeat containing, Nuclear Envelope 2 |
7 |
3 |
7 |
| TCAP |
Titin-cap (telethonin) |
75 |
28 |
57 |
| TMEM5 |
Transmembrane protein 5 |
36 |
7 |
24 |
| TNNI2 |
Troponin I type 2 |
61 |
9 |
56 |
| TNNI3 |
Troponin I type 3 (cardiac) |
0 |
0 |
0 |
| TNNT1 |
Troponin T type 1 |
28 |
12 |
13 |
| TNNT2 |
troponin T type 2 (cardiac) |
0 |
0 |
0 |
| TNNT3 |
Troponin T type 3 |
17 |
10 |
11 |
| TNPO3 |
Transportin 3 |
65 |
3 |
65 |
| TPM1 |
tropomyosin 1 (alpha) |
177 |
32 |
226 |
| TPM2 |
Tropomyosin 2 |
508 |
33 |
366 |
| TPM3 |
Tropomyosin 3 |
72 |
25 |
64 |
| TRAPPC11 |
Trafficking protein particle complex 11 |
8 |
2 |
4 |
| TRDN |
Triadin |
12 |
3 |
9 |
| TRIM32 |
Tripartite motif-containing 32 |
123 |
16 |
71 |
| TTN |
Titin |
3625 |
522 |
3389 |
| TTR |
Transthyretin |
0 |
0 |
0 |
| VCP |
Valosin-containing protein |
160 |
9 |
160 |
| VMA21 |
VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) |
49 |
6 |
49 |
| WNK1 |
WNK lysine deficient protein kinase 1 |
0 |
0 |
0 |
| YARS |
tyrosyl-tRNA synthetase |
0 |
0 |
0 |
| ZMPSTE24 |
Zinc MetalloPeptidase (STE24 homolog, yeast) |
1745 |
54 |
291 |
| |
Total of 158 gene entries |
75152 |
11050 |
59958 |
