Table 2.

NCOR complex genetic variants in human

Gene	Mutation types	Changes of nucleotides or amino acids sequence	Phenotypes								Ref.
			ASD	Intellectual deficiency	Brain malformation	Learning disability	Development delay	Hearing loss	West syndrome	Pierpont syndrome
TBL1XR1	Deletion	3q26.31q26.32 (175,507,453–177,095,072)		√							[100]
		3q26.32 (176,025,379–177,377,006)		√	√					√	[101]
	Micro-deletion	3q26.32 (176,221,801−176,929,584 )		√	√						[102]
	Micro-duplication	3q26.32 (176,648,502–176,957,675)	√	√		√	√	√			[103]
		3q26.32 (176,627,832–177,149,304)	√			√		√			[103]
	Missense	G70D	√				√	√	√		[104]
		Y446C		√	√		√			√	[106, 107]
		L282P	√								[30]
		H441R					√				[109]
		D370Y					√				[109]
		D328G					√				[109]
		P444R	√				√				[109]
		H213Q	√				√				[109]
		C325Y	√	√	√		√			√	[105]
		Y446H		√	√		√			√	[105]
		Y446S		√			√				[108]
	Frameshift	I269YfsTer8	√				√				[109]
		I397SfsX19	√								[30]
NCOR1	Splicing site	c.2182+2T>G	√			√	√				[19]
		c.2182 +1G > T	√			√	√				[24]
		c.3449–1G>C	√								[25]
	Deletion	17:15869204–16021258			√	√					[19]
	Missense	P1025L	√								[25]
NCOR2	Missense	R2296Q			√						[19]
		S647L	√								[26]
		E1328G and V467I	√	√	√						[27]
HDAC3	Missense	L266S				√					[19]