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Gene: CHMP2B & Disease: FTDALS7, 225 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
21507	CHMP2B	c.85A>G	p.Ile29Val (p.I29V)	NM_014043.4 M	SNV	P	1 +	12
21507	CHMP2B	c.4-4965A>G	--	NM_001244644.2	SNV	P	1 +	12
581214	CHMP2B	c.581C>T	p.Ser194Leu (p.S194L)	NM_014043.4 M	SNV	VUS	1 +	6
581214	CHMP2B	c.458C>T	p.Ser153Leu (p.S153L)	NM_001244644.2	SNV	VUS	1 +	6
872081	CHMP2B	c.206G>A	p.Arg69Gln (p.R69Q)	NM_014043.4 M	SNV	P	1 +	4
872081	CHMP2B	c.83G>A	p.Arg28Gln (p.R28Q)	NM_001244644.2	SNV	P	1 +	4
1654	CHMP2B	c.618A>C	p.Gln206His (p.Q206H)	NM_014043.4 M	SNV	P	1 +	3
1037550	CHMP2B	c.613C>T	p.Arg205Trp (p.R205W)	NM_014043.4 M	SNV	VUS	1 +	3
1653	CHMP2B	c.442G>T	p.Asp148Tyr (p.D148Y)	NM_014043.4 M	SNV	P	1 +	3
1654	CHMP2B	c.495A>C	p.Gln165His (p.Q165H)	NM_001244644.2	SNV	P	1 +	3
1037550	CHMP2B	c.490C>T	p.Arg164Trp (p.R164W)	NM_001244644.2	SNV	VUS	1 +	3
1653	CHMP2B	c.319G>T	p.Asp107Tyr (p.D107Y)	NM_001244644.2	SNV	P	1 +	3
260314	CHMP2B	c.560G>A	p.Ser187Asn (p.S187N)	NM_014043.4 M	SNV	LB	1 +	2
21506	CHMP2B	c.556C>T	p.Arg186Ter (p.R186X)	NM_014043.4 M	SNV	LB	1 +	2
21505	CHMP2B	c.532-1G>A	--	NM_014043.4 M	SNV	VUS	1 +	2
98003	CHMP2B	c.532-1G>C	--	NM_014043.4 M	SNV	P	1 +	2
1462278	CHMP2B	c.532-3T>C	--	NM_014043.4 M	SNV	VUS	1 +	2
98002	CHMP2B	c.428A>G	p.Asn143Ser (p.N143S)	NM_014043.4 M	SNV	VUS	1 +	2
1655	CHMP2B	c.493C>T	p.Gln165Ter (p.Q165X)	NM_014043.4 M	SNV	P	1 +	2
1361744	CHMP2B	c.321+3A>G	--	NM_014043.4 M	SNV	LB	1 +	2

225 Results, 20 per Page

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