| Gene symbol |
Gene name |
Total variants |
Unique variants |
Patients |
| ABCA13 |
ATP-binding cassette, sub-family A, member 13 |
107 |
10 |
107 |
| ADAR |
adenosine deaminase, RNA-specific |
22 |
9 |
13 |
| ARG1 |
Arginase 1 |
48 |
15 |
32 |
| ASL |
ArgininoSuccinate lyase |
168 |
39 |
127 |
| ASS1 |
ArgininoSuccinate Synthetase 1 |
200 |
94 |
151 |
| ATM |
Ataxia Telangiectasia Mutated |
1135 |
430 |
745 |
| ATP1A2 |
ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide |
75 |
67 |
75 |
| B3GALTL |
Beta 1,3-GALactosylTransferase-Like |
102 |
37 |
56 |
| 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 |
170 |
154 |
170 |
| CLCN1 |
Chloride channel 1, skeletal muscle |
1829 |
215 |
437 |
| CPS1 |
Carbamoyl-Phosphate Synthetase 1 |
414 |
245 |
351 |
| CREBBP |
CREB Binding Protein |
180 |
160 |
180 |
| EP300 |
E1A binding protein p300 |
20 |
20 |
20 |
| ESCO2 |
Establishment of Cohesion 1 homolog 2 |
51 |
27 |
43 |
| GAA |
Glucosidase, alpha, acid (Pompe disease) |
231 |
170 |
228 |
| GLRA1 |
GLycine Receptor, Alpha 1 |
47 |
15 |
34 |
| GNAS |
GNAS complex locus |
370 |
140 |
370 |
| HGSNAT |
Heparan-alpha-glucosaminide N-acetyltransferase |
134 |
54 |
88 |
| LRP5 |
Low density lipoprotein Receptor-related Protein 5 |
228 |
126 |
150 |
| NAGS |
N-AcetylGlutamate Synthase |
149 |
17 |
139 |
| NBN |
nibrin |
108 |
16 |
108 |
| NOTCH3 |
Notch homolog 3 |
234 |
162 |
233 |
| NR0B1 |
Nuclear Receptor subfamily 0, group B, member 1 (DAX1) |
182 |
109 |
182 |
| NSD1 |
Nuclear receptor binding SET Domain protein 1 |
145 |
95 |
143 |
| OTC |
Ornithine CarbamoylTransferase |
972 |
397 |
659 |
| RNASEH2A |
ribonuclease H2, subunit A |
32 |
19 |
22 |
| RNASEH2B |
ribonuclease H2, subunit B |
115 |
32 |
76 |
| RNASEH2C |
ribonuclease H2, subunit C |
38 |
15 |
26 |
| RNF135 |
Ring Finger protein 135 |
19 |
14 |
19 |
| SAMHD1 |
SAM domain and HD domain 1 |
62 |
29 |
41 |
| SCN4A |
Sodium channel, voltage-gated, type IV, alpha subunit |
750 |
102 |
308 |
| SLC25A13 |
Solute Carrier family 25 member 13 |
163 |
13 |
138 |
| SLC25A15 |
Solute Carrier family 25 member 15 |
53 |
18 |
32 |
| SOST |
Sclerosteosis |
173 |
9 |
105 |
| TCF4 |
TransCription Factor 4 |
111 |
75 |
111 |
| TREX1 |
Three prime repair exonuclease 1 |
131 |
54 |
108 |
| |
Total of 38 gene entries |
9253 |
3337 |
5983 |
