Fig. 2

Patients classified by detected variants There were 25.8% of probands with pathogenic variants (39/151), 2% probands with likely pathogenic variants (3/151), 26.5% with variants of uncertain significance (40/151), and 45.7% of probands without suspicious variants (69/151). If the proband had more than one variant, the “most pathogenic” variant was used to designate pathogenicity