ATP1A3 and auditory neuropathy: Interestingly, one heterozygous missense variant, c.2452 G > A: p.E818K of the ATP1A3 gene (NM_152296.4, NP_689509.1, OMIM *182350), located on chromosome 19q13.2 and classified as ‘pathogenic’ according to CLINVAR (https://www.ncbi.nlm.nih.gov/clinvar/)39, was detected in two (SH191-430 and SH222-518) of the three ANSD subjects (Fig. 2).