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Gene: CD2AP & Disease: FSGS3, 129 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
931125	CD2AP	c.764dup	p.Ser256fs (p.S256fs)	NM_012120.3 M	Dup	P	1 +	6
357170	CD2AP	c.682C>T	p.Arg228Trp (p.R228W)	NM_012120.3 M	SNV	B	1 +	3
402519	CD2AP	c.902A>T	p.Lys301Met (p.K301M)	NM_012120.3 M	SNV	VUS	1 +	3
909445	CD2AP	c.846T>C	p.Gly282= (p.G282=)	NM_012120.3 M	SNV	VUS	1 +	1
357176	CD2AP	c.1569AGA[2]	p.Glu525Del (p.E525del)	NM_012120.3 M	MS	LP	2 +	1
1018891	CD2AP	c.1488G>A	p.Met496Ile (p.M496I)	NM_012120.3 M	SNV	VUS	1 +	1
5703	CD2AP	c.730-1_730delinsCT	--	NM_012120.3 M	Indel	P	1 +	1
5704	CD2AP	c.1834C>T	p.Arg612Ter (p.R612X)	NM_012120.3 M	SNV	P	1 +	1
260180	CD2AP	c.1120A>G	p.Thr374Ala (p.T374A)	NM_012120.3 M	SNV	LB	2 +	0
260181	CD2AP	c.1204C>T	p.Leu402= (p.L402=)	NM_012120.3 M	SNV	B	1 +	0
260184	CD2AP	c.1417+19C>T	--	NM_012120.3 M	SNV	LB	1 +	0
260185	CD2AP	c.1530+20G>A	--	NM_012120.3 M	SNV	LB	1 +	0
260186	CD2AP	c.1632+8G>T	--	NM_012120.3 M	SNV	LB	2 +	0
260188	CD2AP	c.1898A>G	p.Lys633Arg (p.K633R)	NM_012120.3 M	SNV	LB	2 +	0
260189	CD2AP	c.219A>G	p.Glu73= (p.E73=)	NM_012120.3 M	SNV	LB	2 +	0
260191	CD2AP	c.696C>T	p.Ser232= (p.S232=)	NM_012120.3 M	SNV	LB	2 +	0
260192	CD2AP	c.792C>T	p.Thr264= (p.T264=)	NM_012120.3 M	SNV	LB	1 +	0
260193	CD2AP	c.809-11C>A	--	NM_012120.3 M	SNV	B	1 +	0
909444	CD2AP	c.757A>G	p.Lys253Glu (p.K253E)	NM_012120.3 M	SNV	VUS	1 +	0
909446	CD2AP	c.1148C>A	p.Ala383Glu (p.A383E)	NM_012120.3 M	SNV	VUS	1 +	0

129 Results, 20 per Page

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