Fig. 4

Pathogenic classification with ClinVar, classical predictions (NDamage), ML algorithms (Machine Learning Score), and DTreePred. In ClinVar, the variant can be classified as neutral (N), pathogenic (P), conflicting data (C), VUS (U), or not found (NF). The color shows the number of patients carrying the variants; I/II or III/IV stages. The predictors and machine learning algorithms predict only nonsynonymous single nucleotide variants (nsSNVs). Out of the 44 variants, 42 had no information in ClinVar