Figure 4.

Point mutations classified as pathogenic and variant of uncertain significance (VUS) by the American College of Medical Genetics and Genomics (ACMG) [17] observed in ZEB1 exons up to November 2022 [18]. Variants classified as pathogenic are shown in black. Variants classified as VUS are shown in green. Any point mutation classified as “likely pathogenic” has been reported in the Leiden Open Variation Database (LOVD) [18]. The reference transcript employed is NM_030751.6.