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Gene: CNTNAP2 & Disease: Pitt-Hopkins-Like Syndrome, 137 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
205248	CNTNAP2	c.1786G>A	p.Glu596Lys (p.E596K)	NM_014141.6 M	SNV	VUS	3 +	2
95574	CNTNAP2	c.479G>A	p.Arg160His (p.R160H)	NM_014141.6 M	SNV	VUS	3 +	2
205212	CNTNAP2	c.837G>A	p.Val279= (p.V279=)	NM_014141.6 M	SNV	LB	2 +	0
205216	CNTNAP2	c.1777+7G>A	--	NM_014141.6 M	SNV	LB	2 +	0
205245	CNTNAP2	c.1480G>A	p.Glu494Lys (p.E494K)	NM_014141.6 M	SNV	LB	2 +	0
205280	CNTNAP2	c.3155G>A	p.Arg1052His (p.R1052H)	NM_014141.6 M	SNV	LB	3 +	0
198559	CNTNAP2	c.945C>G	p.Thr315= (p.T315=)	NM_014141.6 M	SNV	LB	2 +	0
166910	CNTNAP2	c.1311C>T	p.Ile437= (p.I437=)	NM_014141.6 M	SNV	LB	2 +	0
166911	CNTNAP2	c.1504C>G	p.Leu502Val (p.L502V)	NM_014141.6 M	SNV	VUS	2 +	0
1805512	CNTNAP2	c.2569del	p.Ser857fs (p.S857fs)	NM_014141.6 M	Del	P	1 +	0
359224	CNTNAP2	c.*1648A>C	--	NM_014141.6 M	SNV	VUS	2 +	0
359226	CNTNAP2	c.*1762T>C	--	NM_014141.6 M	SNV	VUS	2 +	0
359234	CNTNAP2	c.*2551A>T	--	NM_014141.6 M	SNV	VUS	2 +	0
359236	CNTNAP2	c.*2699C>T	--	NM_014141.6 M	SNV	VUS	2 +	0
359238	CNTNAP2	c.*2875dup	--	NM_014141.6 M	Dup	LB	2 +	0
359246	CNTNAP2	c.*3419del	--	NM_014141.6 M	Del	VUS	2 +	0
95557	CNTNAP2	c.1710G>A	p.Ser570= (p.S570=)	NM_014141.6 M	SNV	LB	2 +	0
95559	CNTNAP2	c.1777+10A>G	--	NM_014141.6 M	SNV	LB	2 +	0
95561	CNTNAP2	c.2256-6A>T	--	NM_014141.6 M	SNV	LB	2 +	0
95562	CNTNAP2	c.2280A>G	p.Ser760= (p.S760=)	NM_014141.6 M	SNV	LB	2 +	0

137 Results, 20 per Page

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