These missense alterations are the sole group of pathogenic variants associated with common Mendelian Cav1.1 conditions: malignant hyperthermia (MH; Monnier et al., 1997), muscular dystrophy (Zenagui et al., 2018), primary and hypokalemia periodic paralysis (hypoPP; Ptácek et al., 1994), exertional heat illness (Fiszer et al., 2015), and rhabdomyolysis (Vivante et al., 2017). Here, CACNA1S is linked to Malignant hyperthermia.