(a) NM_014714(IFT140): exon 31 deletion (homozygous), short‐rib thoracic dysplasia 9 with or without polydactyly (MIM#266920, AR). (b) NM_006269(RP1):c.4735T>G, L1579V, retinitis pigmentosa 1 (MIM#180100, AD), homozygous. (c) NM_020937(FANCM):c.2859A>C, p.K953N (MIM#609644), Fanconi anemia complementation group M (MIM#614087, AR), homozygous. The gene discussed is FANCM; the disease is Fanconi anemia.