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Gene: CHD2 & Disease: Non-Specific Syndromic Intellectual Disability, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
218395	CHD2	c.4173dup	p.Gln1392fs (p.Q1392fs)	NM_001271.4 M	Dup	P	2 +	6
432036	CHD2	c.3782G>T	p.Trp1261Leu (p.W1261L)	NM_001271.4 M	SNV	P	2 +	2
560973	CHD2	c.2699G>A	p.Arg900Gln (p.R900Q)	NM_001271.4 M	SNV	P	2 +	2
984879	CHD2	c.2963C>G	p.Ser988Ter (p.S988X)	NM_001271.4 M	SNV	P	1 +	0
984848	CHD2	c.2068C>T	p.His690Tyr (p.H690Y)	NM_001271.4 M	SNV	LP	1 +	0

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