Table 4.
Results for the three atypical KdVS patients with a KANSL1 variant of unknown significance.
| Patient | Variant | Distance to nearest KdVS patient | Median distance of controls to nearest patient | P value |
|---|---|---|---|---|
| 1 | c.2542-3C>A | 1.3431 | 1.2971 | 0.636 |
| 2 | c.1448G>A (p.(Gly483Glu)) | 1.1864 | 1.3012 | 0.144 |
| 3 | c.530A>G (p.(Asn177Ser)) | 1.4651 | 1.2971 | 0.877 |
The results of the analysis for the three patients with a KANSL1 variant of unknown significance. The reference sequences used are: NM_001193466.1 (patient #1), NM_001193466.1 (#2) and NM_015443.3 (#3), respectively.