Abstract: Objective　To explore the correlation of TSC1 and TSC2 genotype with clinical phenotype in tuberous sclerosis. Method　The TSC1 and TSC2 gene analysis were performed in 30 children from August 2016 to August 2017, and the relationship between genotype and phenotype was analyzed. Results　In 30 children with tuberous sclerosis (22 males and 8 females) with a median age at 6.45 years, TSC1 gene mutation was found in 5 cases, and TSC2 gene mutation in 22 cases. A mutation rate was 90%. There were 5 types of mutations in TSC1 and TSC2 genes including missense mutation, nonsense mutation, large fragment deletion, frameshift mutation and shear mutation, and the incidence rates of nonsense mutations, shear mutations and transcoding mutations were the highest. Only shear mutation and frameshift mutation were found in TSC1 gene. All the above 5 mutations were found in TSC2 gene. A total of 12 clinical phenotypes of tuberous sclerosis were found and the facial angiofibroma, epilepsy and mental retardation had highest incidence. There was statistical difference in the incidence of epilepsy between the TSC2 and TSC1 genotypes (P<0.05). Conclusions　There are many clinical phenotypes and mutation types in tuberous sclerosis. The mutation frequency of TSC2 gene is higher than that of TSC1 gene, and the mutation of TSC2 gene is more likely to cause severe clinical manifestations of tuberous sclerosis.