Most detected variants affected the Fanconi anemia/DNA repair pathway (34%, ATM, FANCA, FANCI, MLH1, MSH6, POLE, RAD51C, RAD51D) followed by mutations altering the SWI/SNF (SWItch/sucrose non-fermentable) complex (22%, ARID1A and SMARCA4). The gene discussed is FANCA; the disease is Fanconi anemia.