question: Variant on chromosome 15, at position 64393978, affecting TRIP4 (thyroid hormone receptor interactor 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
answer: pathogenic; ['Congenital_muscular_dystrophy-respiratory_failure-skin_abnormalities-joint_hyperlaxity_syndrome', 'Spinal_muscular_atrophy_with_congenital_bone_fractures_1']