Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: SCN2A & Disease: Scn2a Related Disorders, 50 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
985353	SCN2A	c.408G>A	p.Met136Ile (p.M136I)	NM_001040142.2 M	SNV	P	4 +	5
	SCN2A	c.408G>A	p.Met136Ile (p.M136I)	NM_001371246.1 MP	SNV	P	4 +	5
	SCN2A	c.408G>A	p.Met136Ile (p.M136I)	NM_001040143.2	SNV	P	4 +	5
	SCN2A	c.408G>A	p.Met136Ile (p.M136I)	NM_001371247.1	SNV	P	4 +	5
	SCN2A	c.408G>A	p.Met136Ile (p.M136I)	NM_021007.3	SNV	P	4 +	5
523396	SCN2A	c.5485C>T	p.Leu1829Phe (p.L1829F)	NM_001040142.2 M	SNV	LP	1 +	0
545912	SCN2A	c.4727del	p.Gly1576fs (p.G1576fs)	NM_001040142.2 M	Del	P	2 +	0
489345	SCN2A	c.4591C>T	p.Gln1531Ter (p.Q1531X)	NM_001040142.2 M	SNV	P	2 +	0
1308640	SCN2A	c.4437G>C	p.Gln1479His (p.Q1479H)	NM_001040142.2 M	SNV	LP	2 +	0
984816	SCN2A	c.3399G>C	p.Glu1133Asp (p.E1133D)	NM_001040142.2 M	SNV	LP	2 +	0
1203296	SCN2A	c.2960G>A	p.Ser987Asn (p.S987N)	NM_001040142.2 M	SNV	LP	1 +	0
1783902	SCN2A	c.1988T>A	p.Leu663His (p.L663H)	NM_001040142.2 M	SNV	VUS	1 +	0
1339847	SCN2A	c.1511_1512del	p.Arg504fs (p.R504fs)	NM_001040142.2 M	Del	VUS	1 +	0
2584477	SCN2A	c.606-131T>A	--	NM_001040142.2 M	SNV	LP	1 +	0
523396	SCN2A	c.5485C>T	p.Leu1829Phe (p.L1829F)	NM_001371246.1 MP	SNV	LP	1 +	0
545912	SCN2A	c.4727del	p.Gly1576fs (p.G1576fs)	NM_001371246.1 MP	Del	P	2 +	0
489345	SCN2A	c.4591C>T	p.Gln1531Ter (p.Q1531X)	NM_001371246.1 MP	SNV	P	2 +	0
1308640	SCN2A	c.4437G>C	p.Gln1479His (p.Q1479H)	NM_001371246.1 MP	SNV	LP	2 +	0
984816	SCN2A	c.3399G>C	p.Glu1133Asp (p.E1133D)	NM_001371246.1 MP	SNV	LP	2 +	0
1203296	SCN2A	c.2960G>A	p.Ser987Asn (p.S987N)	NM_001371246.1 MP	SNV	LP	1 +	0

50 Results, 20 per Page

Comparison