Fig. 1 | European Journal of Human Genetics

Fig. 1

From: 1 in 38 individuals at risk of a dominant medically actionable disease

Fig. 1

Schematic representation of actionable (likely) pathogenic variants identified in 1640 healthy individuals in the 59 ACMG genes. Data is visualized by type of disease (cardiogenetic, oncogenetic, connective tissue, and other). Mode of inheritance is represented in blue for dominant disease genes and orange for recessive disease genes. X-linked genes are indicated by #. All detected (likely) pathogenic variants and their classification according to HGVS recommendations [16] and ACMG-AMP guidelines [18], respectively, are provided in Supplementary Table 1. Abbreviations: HCM hypertrophic cardiomyopathy; DCM dilated cardiomyopathy; ARVC arrhythmogenic right ventricular cardiomyopathy; TSC tuberous sclerosis complex; HBOC hereditary breast and ovarian cancer; n.a. not applicable

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