至今已发现10余种遗传性疾病与动态突变有关，其中属于CGG/CCG重复的有脆性X综合征，以及Fraxe综合征；属于CAG/CTG重复的有重症肌无力（DM）、X连锁的脊柱和延髓肌萎缩、脊髓与小脑运动失调-1型（SCA1）、舞蹈症、亨廷顿病、齿状核与苍白球萎缩症，以苍白球萎缩症do-Josephdisease（MJD）等。
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