SHMT2 and movement disorder: Indeed, in addition to the phenome-wide significant association with diseases of the salivary gland uncovered in our study, the SHMT2 uORF stop-strengthening variant was nominally associated with several Phecodes related to cardiac and movement disorders in the PMBB (Supplementary Table 6), including congenital anomalies of the great vessels (ICD 747.13, P = 0.0117), abnormal involuntary movements (350.1, P = 0.0238), abnormality of gait (350.2, P = 0.02575), Mobitz II AV block (426.22, P = 0.03432), and Arrhythmia (cardiac) NOS (427.5, P = 0.04977).