Fig. 4: Distribution of pathogenic and likely pathogenic variants identified in the genes included in the Geno4ME inherited disease panel.

This bar graph displays the number of pathogenic and likely pathogenic (P/LP) variants identified in genes associated with increased risk of cancer (total N = 100, with 60 variants associated with an increased risk for the participants in medium blue, and 40 identified as carrier risk only in light blue), cardiovascular and connective tissue diseases (total N = 31, with 27 variants associated with an increased risk for the participants in medium green, and 4 identified as carrier risk only in light green), and other (total N = 32, with 4 variants associated with an increased risk for the participants in dark blue, and 28 identified as carrier risk only in very dark blue). In total, 163 P/LP were identified and confirmed by the external reference laboratory. Of note, for VHL, one variant (in light blue) was only associated with autosomal recessive erythrocytosis and polycythemia, for APOB, 3 variants (light green) were associated with hypobetalipoproteinemia, and for LMNA, 1 variant was associated with Hutchinson-Gilford progeria syndrome and mandibuloacral dysplasia type A (light green).