Nucleotide-binding oligomerization domain containing 2 (NOD2) variants, including p.R334W, p.R334Q, p.E383K, p.G481D, p.W490S, p.M513T, p.R587C, and p.N670K, have been found in Chinese populations to be gain-of-function mutations and pathological in uveitis, especially for Blau syndrome. The gene discussed is NOD2; the disease is uveitis.