Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: TGFB2 & Disease: EDS, 30 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
155837	TGFB2	c.619G>C	p.Val207Leu (p.V207L)	NM_003238.6 M	SNV	LB	6 +	4
155837	TGFB2	c.703G>C	p.Val235Leu (p.V235L)	NM_001135599.4	SNV	LB	6 +	4
213839	TGFB2	c.199G>A	p.Val67Met (p.V67M)	NM_003238.6 M	SNV	VUS	4 +	3
213839	TGFB2	c.199G>A	p.Val67Met (p.V67M)	NM_001135599.4	SNV	VUS	4 +	3
1702286	TGFB2	c.988C>G	p.Leu330Val (p.L330V)	NM_003238.6 M	SNV	VUS	3 +	1
213835	TGFB2	c.272G>A	p.Arg91His (p.R91H)	NM_003238.6 M	SNV	LB	7 +	1
213840	TGFB2	c.356C>T	p.Pro119Leu (p.P119L)	NM_003238.6 M	SNV	LB	5 +	1
1702286	TGFB2	c.1072C>G	p.Leu358Val (p.L358V)	NM_001135599.4	SNV	VUS	3 +	1
213835	TGFB2	c.272G>A	p.Arg91His (p.R91H)	NM_001135599.4	SNV	LB	7 +	1
213840	TGFB2	c.440C>T	p.Pro147Leu (p.P147L)	NM_001135599.4	SNV	LB	5 +	1
139416	TGFB2	c.643+7A>C	--	NM_003238.6 M	SNV	LB	4 +	0
264449	TGFB2	c.588C>T	p.Gly196= (p.G196=)	NM_003238.6 M	SNV	LB	4 +	0
1702284	TGFB2	c.1041del	p.Gly348fs (p.G348fs)	NM_003238.6 M	Del	P	1 +	0
1702285	TGFB2	c.254G>A	p.Arg85Lys (p.R85K)	NM_003238.6 M	SNV	VUS	1 +	0
459269	TGFB2	c.555C>T	p.Ile185= (p.I185=)	NM_003238.6 M	SNV	LB	4 +	0
213833	TGFB2	c.-5A>T	--	NM_003238.6 M	SNV	LB	4 +	0
213834	TGFB2	c.114G>A	p.Glu38= (p.E38=)	NM_003238.6 M	SNV	LB	5 +	0
213836	TGFB2	c.357G>A	p.Pro119= (p.P119=)	NM_003238.6 M	SNV	LB	5 +	0
509439	TGFB2	c.501G>A	p.Glu167= (p.E167=)	NM_003238.6 M	SNV	LB	4 +	0
380608	TGFB2	c.303G>A	p.Lys101= (p.K101=)	NM_003238.6 M	SNV	LB	4 +	0

30 Results, 20 per Page

Comparison