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). This evidence concerns the gene TSC2 and angiomyolipoma.