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Gene: SCN2B & Disease: ATFB14, 105 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
666404	SCN2B	c.295G>A	p.Val99Met (p.V99M)	NM_004588.5 M	SNV	VUS	1 +	3
60776	SCN2B	c.632A>G	p.Asp211Gly (p.D211G)	NM_004588.5 M	SNV	VUS	1 +	3
191494	SCN2B	c.118G>A	p.Val40Ile (p.V40I)	NM_004588.5 M	SNV	VUS	1 +	2
1403985	SCN2B	c.448+6G>C	--	NM_004588.5 M	SNV	VUS	1 +	2
1006173	SCN2B	c.5A>G	p.His2Arg (p.H2R)	NM_004588.5 M	SNV	VUS	1 +	2
518839	SCN2B	c.205T>C	p.Tyr69His (p.Y69H)	NM_004588.5 M	SNV	VUS	1 +	2
264461	SCN2B	c.478G>A	p.Val160Met (p.V160M)	NM_004588.5 M	SNV	VUS	1 +	2
1022738	SCN2B	c.237G>C	p.Met79Ile (p.M79I)	NM_004588.5 M	SNV	VUS	1 +	2
408877	SCN2B	c.292C>G	p.Arg98Gly (p.R98G)	NM_004588.5 M	SNV	VUS	1 +	2
408874	SCN2B	c.578C>G	p.Thr193Arg (p.T193R)	NM_004588.5 M	SNV	LB	1 +	2
544054	SCN2B	c.461G>A	p.Arg154Gln (p.R154Q)	NM_004588.5 M	SNV	VUS	1 +	2
1747296	SCN2B	c.53G>A	p.Ser18Asn (p.S18N)	NM_004588.5 M	SNV	VUS	1 +	2
259446	SCN2B	c.449-12C>A	--	NM_004588.5 M	SNV	B	1 +	2
947137	SCN2B	c.640G>A	p.Ala214Thr (p.A214T)	NM_004588.5 M	SNV	LB	1 +	2
1439728	SCN2B	c.452C>A	p.Pro151His (p.P151H)	NM_004588.5 M	SNV	VUS	1 +	2
2159616	SCN2B	c.274C>G	p.Leu92Val (p.L92V)	NM_004588.5 M	SNV	VUS	1 +	1
1080323	SCN2B	c.495C>T	p.Ser165= (p.S165=)	NM_004588.5 M	SNV	LB	1 +	1
191493	SCN2B	c.629C>T	p.Pro210Leu (p.P210L)	NM_004588.5 M	SNV	VUS	1 +	1
1153544	SCN2B	c.126T>C	p.Asn42= (p.N42=)	NM_004588.5 M	SNV	LB	1 +	1
191495	SCN2B	c.44C>T	p.Thr15Met (p.T15M)	NM_004588.5 M	SNV	VUS	1 +	1

共105个结果, 每页展示20条

Comparison