mut_id = mutation identifier of the variant for the database sys_name = cDNA name for the variant prot_name= Protein change for the variant path_poly = pathogenicity class of the variant. C5-Pathogenic;C4-Likely Pathogenic;C3-VOUS;C2-Likely Benign;C1-Benign phenotype = R- Rett sydnrome; NR-not Rett syndrome phe_class = additional details of phenotype gender = M-Male;F-Female;U-Not known pmid= pubmed publication id if published or submitter id if by direct submission author1- first author ds-direct submission (Yes if variant directly submitted to RettBASE) year-year of publication/submission pro_id= proband id in the database prot_alt_name= protein change in old nomenclature prot_domain = protein domain affected by the variant mut_type=mutation type (missense/nonsense etc) other_mut =details of other mutations if identified x_inact= X-chromosome inactivation; has X-chromosome inactivation been measured? Options are Y, N, NA for not applicable (for males) and NK for not known x_results =short description of X-chromosome inactivation results control_screen= has any normal population controls been tested control_results=results of population screening f_screen=has any family members been tested? f_results=description of familial testing results, if any f_x_inact=results of any X-chromosome inactivation studies in family members chrom_abnorm=are there any chromosomal abnormalities? Options are Y, N, and NK for not known detect=method of detecting the variant. extent=the extent of the testing carried out for the proband rsid=dbSNP identifier