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Gene: CNTNAP1 & Disease: LCCS7, 19 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
242386	CNTNAP1	c.967T>C	p.Cys323Arg (p.C323R)	NM_003632.3 M	SNV	P	2 +	7
254173	CNTNAP1	c.1561dup	p.Leu521fs (p.L521fs)	NM_003632.3 M	Dup	P	1 +	4
522842	CNTNAP1	c.1163G>C	p.Arg388Pro (p.R388P)	NM_003632.3 M	SNV	P	2 +	3
204313	CNTNAP1	c.2901_2902del	p.Cys968fs (p.C968fs)	NM_003632.3 M	Del	P	2 +	3
204313	CNTNAP1	c.2901_2902delCT	--	NM_003632.3 M	Del	P	2 +	3
803394	CNTNAP1	c.151A>C	p.Arg51= (p.R51=)	NM_003632.3 M	SNV	B	2 +	2
773317	CNTNAP1	c.2340C>A	p.Gly780= (p.G780=)	NM_003632.3 M	SNV	LB	2 +	2
1032140	CNTNAP1	c.3657_3660dup	p.Leu1221fs (p.L1221fs)	NM_003632.3 M	Dup	P	1 +	2
1679372	CNTNAP1	c.1823del	p.Leu608fs (p.L608fs)	NM_003632.3 M	Del	LP	1 +	1
1679401	CNTNAP1	c.1046G>T	p.Gly349Val (p.G349V)	NM_003632.3 M	SNV	LP	1 +	1
1252013	CNTNAP1	c.2515C>T	p.Arg839Trp (p.R839W)	NM_003632.3 M	SNV	P	1 +	1
1217319	CNTNAP1	c.364-34A>G	--	NM_003632.3 M	SNV	B	2 +	1
1217320	CNTNAP1	c.1736-22G>A	--	NM_003632.3 M	SNV	B	2 +	1
189261	CNTNAP1	c.3009dup	p.Glu1004Ter (p.E1004X)	NM_003632.3 M	Dup	P	1 +	1
189262	CNTNAP1	c.2993-1_2995del	--	NM_003632.3 M	Del	P	1 +	1
1031348	CNTNAP1	c.2930G>A	p.Arg977His (p.R977H)	NM_003632.3 M	SNV	VUS	1 +	1
692016	CNTNAP1	c.2668C>T	p.Arg890Ter (p.R890X)	NM_003632.3 M	SNV	P	1 +	1
781302	CNTNAP1	c.327C>T	p.Asp109= (p.D109=)	NM_003632.3 M	SNV	LB	2 +	0
266117	CNTNAP1	c.2444C>A	p.Thr815Asn (p.T815N)	NM_003632.3 M	SNV	LP	1 +	0

19 Results, 20 per Page

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