Table 2.
Selected predicted best scored variants of unkown significance
| Case | Gain/loss | Cytoband | Size (Mb) | Oligo nr. | Score | ISCA | Diagnosis |
|---|---|---|---|---|---|---|---|
| 1 |
Del |
8q22.2 |
0.25 |
56 |
100% |
5 |
Autism |
| 2 |
Del |
5q35.3 |
0.7 |
27 |
93% |
6 |
Mental retardation |
| 3 |
Dup |
3p26.3 |
0.33 |
21 |
90% |
10 |
Mental retardation |
| 4 |
Dup |
12q24.32 |
0.4 |
9 |
88% |
7 |
Mental retardation |
| 5 |
Dup |
4q28.2 |
0.12 |
77 |
87% |
6 |
Mental retardation |
| 6 |
Dup |
3p22.3 |
1.2 |
30 |
83% |
4 |
Autism |
| 7 |
Dup |
6q25.3 |
0.9 |
17 |
82% |
4 |
Mental retardation |
| 8 | Del | 4q21.23q21.3 | 0.95 | 22 | 81% | 4 | Autism |