In particular, aortic ectasia resulted significantly influenced by FBN1 rare pathogenic variants and by FBN1, COL1A1 and COL3A1 VUS, arachnodactyly resulted influenced by FBN1 rare pathogenic and VUS rare variant; MYH11 pathogenic variants and FBN1 VUS resulted associated with ectopia lentis. The gene discussed is COL1A1; the disease is isolated ectopia lentis.