TABLE 2.

ASD-associated NLGN4X variants.

Variants	Inheritance Pattern	Sex	Primary Phenotype	Additional Comments/References
G84R	Maternal	M	ASD	Asymptomatic mothers (Xu et al., 2014)
R87W	De novo	M	ASD	Zhang et al. (2009)
P94L	N/A	N/A	N/A	GeneDX submitted on ClinVar with unknown significance
G99S	Maternal	F	ASD	Mother also has learning disability. A brother also has learning disability (Yan et al., 2005)
		M	ASD	Mother also has learning disability. Sibling of above (Yan et al., 2005)
R101Q	Maternal	M	ASD	Nguyen et al. (2020)
V109L	Maternal	M	ID	Nguyen et al. (2020)
Q162K	De novo	F	ASD	Xu et al. (2014)
L211X	N/A	N/A	Anxiety, ADHD, Cerebral palsy	Yuen et al. (2017)
Q274X	Maternal	M	ADHD	Yuen et al. (2017)
A283T	Maternal	M	ASD	Xu et al. (2014)
Q329X	Maternal	M	ASD	Yu et al. (2013)
K378R	Maternal	M	ASD	Pampanos et al. (2009)
		M	ASD	Yan et al. (2005)
396X frameshift 1186t	Maternal	2 × M	Asperger’s syndrome/ASD	Jamain et al. (2003)
V403M	Maternal	M	ASD	Have both affected and unaffected siblings (Xu et al., 2014)
429X (nt1253del(AG)	Maternal	13 × M	ASD/ID	Laumonnier et al. (2004)
V454_A457X	De novo	M	ID	Martínez et al. (2016)
V522M	De novo	N/A	TD	Wang et al. (2018)
R704C	Maternal	M	ASD	Unaffected sister (+/−) (Yan et al., 2005)
R766Q	Maternal	M	ASD	Yu et al. (2013)