A total of 9 germline mutations were detected in 8 of the 10 TSC-LAM patients, including 2 pathogenic mutations in patients ID140 (TSC2/p.Arg1459*) and ID130 (TSC2/p.Trp1740*), 1 Likely Pathogenic mutations in ID131 (TSC2/c.2220+2_2220+9del), and 6 VUS: ID052 (TSC2/p.Thr603Ser), ID058 (TSC1/p.Asn198Ser), ID148 (TSC1/p.Met879Thr), ID152 (TSC1/p.Ser1799del) and ID187 (TSC1/p.Arg517Trp, TSC1/p.Arg484Gly). Here, TSC1 is linked to lymphangioleiomyomatosis.