Identifying novel gene variants and their frequency in specific populations is valuable for public health and potentially for genetic screening of NSHL.<h4>Aims</h4>To identify the gene variants underlying NSHL in a Pakistani cohort.<h4>Methods and results</h4>A cohort of 40 school-aged children with NSHL was initially screened for variants in GJB2, the gene with the highest incidence of variants in other populations with NSHL. This evidence concerns the gene GJB2 and nodular sclerosis classical Hodgkin lymphoma.