Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: APC2 & Disease: Sotos Syndrome 3, 28 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1033038	APC2	c.796C>A	p.Pro266Thr (p.P266T)	NM_005883.3 M	SNV	VUS	2 +	2
1028956	APC2	c.4616G>C	p.Arg1539Pro (p.R1539P)	NM_005883.3 M	SNV	VUS	2 +	2
1185404	APC2	c.4384A>C	p.Arg1462= (p.R1462=)	NM_005883.3 M	SNV	B	3 +	2
493243	APC2	c.5108C>A	p.Ala1703Glu (p.A1703E)	NM_005883.3 M	SNV	VUS	2 +	2
1033038	APC2	c.793C>A	p.Pro265Thr (p.P265T)	NM_001351273.1	SNV	VUS	2 +	2
1028956	APC2	c.4613G>C	p.Arg1538Pro (p.R1538P)	NM_001351273.1	SNV	VUS	2 +	2
1185404	APC2	c.4381A>C	p.Arg1461= (p.R1461=)	NM_001351273.1	SNV	B	3 +	2
493243	APC2	c.5105C>A	p.Ala1702Glu (p.A1702E)	NM_001351273.1	SNV	VUS	2 +	2
1683633	APC2	c.2595C>A	p.His865Gln (p.H865Q)	NM_005883.3 M	SNV	VUS	3 +	1
1033035	APC2	c.5772G>C	p.Gln1924His (p.Q1924H)	NM_005883.3 M	SNV	VUS	2 +	1
1033036	APC2	c.6111C>T	p.Phe2037= (p.F2037=)	NM_005883.3 M	SNV	VUS	2 +	1
1033037	APC2	c.757C>T	p.Pro253Ser (p.P253S)	NM_005883.3 M	SNV	VUS	2 +	1
267259	APC2	c.5199dup	p.Lys1734fs (p.K1734fs)	NM_005883.3 M	Dup	P	2 +	1
1028957	APC2	c.583C>T	p.Arg195Cys (p.R195C)	NM_005883.3 M	SNV	VUS	2 +	1
1185403	APC2	c.413+95T>C	--	NM_005883.3 M	SNV	B	3 +	1
1339351	APC2	c.6620C>T	p.Pro2207Leu (p.P2207L)	NM_005883.3 M	SNV	P	2 +	1
1339352	APC2	c.1063G>A	p.Val355Ile (p.V355I)	NM_005883.3 M	SNV	P	2 +	1
1683633	APC2	c.2592C>A	p.His864Gln (p.H864Q)	NM_001351273.1	SNV	VUS	3 +	1
1033035	APC2	c.5769G>C	p.Gln1923His (p.Q1923H)	NM_001351273.1	SNV	VUS	2 +	1
1033036	APC2	c.6108C>T	p.Phe2036= (p.F2036=)	NM_001351273.1	SNV	VUS	2 +	1

28 Results, 20 per Page

Comparison