List of pathogenic, likely pathogenic and variants of unknown significance in patients with RCM.

<p>List of pathogenic, likely pathogenic and variants of unknown significance in patients with RCM.</p

Genetic variants, identified in patients with RCM.

<p>(a) Overall yield of genotype-positive (pathogenic and likely pathogenic) variants and variants of unknown significance according to ACMG classification. (b) Genes where pathogenic, likely pathogenic variants and variants of unknown significance were detected. Blue corresponds to the genes encoding for sarcomeric proteins, red—to the genes encoding for cytoskeletal proteins, green—to ion channels and purple to the other genes. (c) Combination of pathogenic variants, likely pathogenic variants and variants of unknown significance in patients with RCMP.</p

Interaction network of proteins harboring RCM-associated genetic variants.

<p>For proteins with RCM-associated pathogenic and likely pathogenic variants (red boxed), variants of unknown significance (orange boxes) and rare SNPs (yellow boxes) a closely interconnected network was generated by manual curation of scientific literature. The interlinking proteins are shown as gray boxes. Green arrows, red lines with cross bars, green lines with filled circles, and blue lines indicate activation, inhibition, modulation of activity, and direct physical interactions, respectively.</p