Therefore, these variants were thought to be of uncertain significance (VUS), which were detected in 12 genes: MYOT, TTN and PLEC related to LGMD; COL6A1 and ITGA7 related to congenital muscular dystrophy; NEB, RYR1 and KBTBD13 related to congenital myopathy; FLNC related to myofibrillar myopathy; CHRNA1 related to congenital myasthenic syndrome; MYH7 related to Laing distal myopathy; and CLCN1 related to myotonia congenital (S5 Table). The gene discussed is COL6A1; the disease is congenital myasthenic syndrome.