Based on the numbers of TSC1/2 variants identified in each patient, the 46 patients with 86 significant variants in TSC1/2 could be categorized into 3 groups: 1) eight patients were found to carry single variants of TSC1/2 including germline variants in 2 cases (ID140 with a SNV of TSC2/p.Arg1459*/Pathogenic and ID180 with a duplication of exon 31–42 of TSC2/Likely Pathogenic, however, no obvious symptoms of TSC and no angiomyolipomas or sclerotic bone lesions complications in this patient whom without family history). Here, TSC2 is linked to tuberous sclerosis.