TABLE 2.

Missense variants reported for KCNQ3.

Table gives number of observations of each variant (frequency) in gnomAD, associated phenotype, region within Kv7.3, and functional consequences in vitro if known; blue, intellectual disability (ID) with or without autism spectrum disorder (ASD); purple, benign familial neonatal epilepsy (BFNE) or benign infantile epilepsy (BFIE) phenotypes; gray, variants of questionable pathogenicity; LoF, loss-of-function; GoF, gain-of-function; * individuals with mild/moderate ID reported; ^ mosaic individual.