| Gene symbol |
Gene name |
Total variants |
Unique variants |
Patients |
| ABCA13 |
ATP-binding cassette, sub-family A, member 13 |
107 |
10 |
107 |
| ARG1 |
Arginase 1 |
48 |
15 |
32 |
| ASL |
ArgininoSuccinate lyase |
168 |
39 |
127 |
| ASS1 |
ArgininoSuccinate Synthetase 1 |
200 |
94 |
151 |
| ATM |
Ataxia Telangiectasia Mutated |
1347 |
482 |
860 |
| ATP1A2 |
ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide |
75 |
67 |
75 |
| CACNA1A |
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
184 |
120 |
153 |
| CACNA1S |
Calcium channel, voltage-dependent, L type, alpha 1S subunit |
101 |
14 |
44 |
| CDKN2A |
Cyclin-Dependent Kinase inhibitor 2A |
171 |
155 |
171 |
| CLCN1 |
Chloride channel 1, skeletal muscle |
1829 |
215 |
437 |
| CPS1 |
Carbamoyl-Phosphate Synthetase 1 |
414 |
245 |
351 |
| CREBBP |
CREB Binding Protein |
185 |
164 |
184 |
| ESCO2 |
Establishment of Cohesion 1 homolog 2 |
51 |
27 |
43 |
| GLRA1 |
GLycine Receptor, Alpha 1 |
47 |
15 |
34 |
| HGSNAT |
Heparan-alpha-glucosaminide N-acetyltransferase |
134 |
54 |
88 |
| LRP5 |
Low density lipoprotein Receptor-related Protein 5 |
228 |
126 |
150 |
| NR0B1 |
Nuclear Receptor subfamily 0, group B, member 1 (DAX1) |
182 |
109 |
182 |
| OTC |
Ornithine CarbamoylTransferase |
972 |
397 |
659 |
| RNF135 |
Ring Finger protein 135 |
19 |
14 |
19 |
| SAMHD1 |
SAM domain and HD domain 1 |
64 |
30 |
42 |
| SCN4A |
Sodium channel, voltage-gated, type IV, alpha subunit |
750 |
102 |
308 |
| SLC25A13 |
Solute Carrier family 25 member 13 |
165 |
14 |
139 |
| SLC25A15 |
Solute Carrier family 25 member 15 |
55 |
19 |
33 |
| SOST |
Sclerosteosis |
173 |
9 |
105 |
| TCF4 |
TransCription Factor 4 |
111 |
75 |
111 |
| TREX1 |
Three prime repair exonuclease 1 |
131 |
54 |
108 |
| |
Total of 26 gene entries |
7911 |
2665 |
4672 |
