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Gene: SYN1 & Disease: X-Linked Epilepsy with Variable Learning Disabilities and Behavior Disorders, 668 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
465099	SYN1	c.528-2A>T	--	NM_006950.3 M	SNV	P	2 +	4
932913	SYN1	c.986C>T	p.Thr329Met (p.T329M)	NM_006950.3 M	SNV	LP	3 +	4
465099	SYN1	c.528-2A>T	--	NM_133499.2	SNV	P	2 +	4
932913	SYN1	c.986C>T	p.Thr329Met (p.T329M)	NM_133499.2	SNV	LP	3 +	4
96364	SYN1	c.510T>C	p.Asn170= (p.N170=)	NM_006950.3 M	SNV	LB	3 +	3
139384	SYN1	c.152C>G	p.Ala51Gly (p.A51G)	NM_006950.3 M	SNV	B	2 +	3
936182	SYN1	c.378-1G>A	--	NM_006950.3 M	SNV	LP	2 +	3
41889	SYN1	c.1648G>A	p.Ala550Thr (p.A550T)	NM_006950.3 M	SNV	P	2 +	3
2006060	SYN1	c.1159-2A>G	--	NM_006950.3 M	SNV	LP	2 +	3
96364	SYN1	c.510T>C	p.Asn170= (p.N170=)	NM_133499.2	SNV	LB	3 +	3
139384	SYN1	c.152C>G	p.Ala51Gly (p.A51G)	NM_133499.2	SNV	B	2 +	3
936182	SYN1	c.378-1G>A	--	NM_133499.2	SNV	LP	2 +	3
41889	SYN1	c.1648G>A	p.Ala550Thr (p.A550T)	NM_133499.2	SNV	P	2 +	3
2006060	SYN1	c.1159-2A>G	--	NM_133499.2	SNV	LP	2 +	3
1966174	SYN1	c.1820C>G	p.Ala607Gly (p.A607G)	NM_006950.3 M	SNV	VUS	2 +	2
96363	SYN1	c.1107C>T	p.Ile369= (p.I369=)	NM_006950.3 M	SNV	LB	2 +	2
2064497	SYN1	c.527G>A	p.Arg176Gln (p.R176Q)	NM_006950.3 M	SNV	VUS	2 +	2
1484946	SYN1	c.1110C>G	p.Cys370Trp (p.C370W)	NM_006950.3 M	SNV	VUS	3 +	2
931996	SYN1	c.1657T>C	p.Ser553Pro (p.S553P)	NM_006950.3 M	SNV	VUS	2 +	2
465085	SYN1	c.1063C>T	p.Leu355= (p.L355=)	NM_006950.3 M	SNV	LB	2 +	2

668 Results, 20 per Page

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