The following variants were detected more than once: MTM1, NM_000252: exon13 c.1456C>T p.R486X (myopathy, centronuclear; OMIM#310400); CEP290, NM_025114: exon21 c.2144T>G p.L715 (Joubert syndrome 1; OMIM#213300), ARL13B, NM_001174150: exon5 c.568A>G p.I190V (Joubert syndrome 8; OMIM#612291), and GJB2, NM_004004: exon2, c.109G>A p.V37I (deafness, autosomal recessive 1A; OMIM220290). The gene discussed is CEP290; the disease is Joubert syndrome.