Mutation Direct

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Gene: REEP2 & Disease: SPG72A, 152 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
766996	REEP2	c.159G>A	p.Thr53= (p.T53=)	NM_001271803.2 M	SNV	LB	1 +	2
1493138	REEP2	c.697-3C>T	--	NM_001271803.2 M	SNV	VUS	1 +	2
864419	REEP2	c.119T>G	p.Met40Arg (p.M40R)	NM_001271803.2 M	SNV	P	1 +	2
2051992	REEP2	c.696+6G>C	--	NM_001271803.2 M	SNV	VUS	1 +	2
766996	REEP2	c.159G>A	p.Thr53= (p.T53=)	NM_016606.4	SNV	LB	1 +	2
1493138	REEP2	c.691-3C>T	--	NM_016606.4	SNV	VUS	1 +	2
864419	REEP2	c.119T>G	p.Met40Arg (p.M40R)	NM_016606.4	SNV	P	1 +	2
2051992	REEP2	c.690+6G>C	--	NM_016606.4	SNV	VUS	1 +	2
1984521	REEP2	c.33-10G>C	--	NM_001271803.2 M	SNV	VUS	1 +	1
704542	REEP2	c.605C>T	p.Pro202Leu (p.P202L)	NM_001271803.2 M	SNV	B	1 +	1
1985566	REEP2	c.418-16G>A	--	NM_001271803.2 M	SNV	LB	1 +	1
2073637	REEP2	c.514G>A	p.Gly172Ser (p.G172S)	NM_001271803.2 M	SNV	VUS	1 +	1
1992748	REEP2	c.222A>G	p.Ile74Met (p.I74M)	NM_001271803.2 M	SNV	VUS	1 +	1
1060404	REEP2	c.1A>G	p.Met1Val (p.M1V)	NM_001271803.2 M	SNV	VUS	1 +	1
1138749	REEP2	c.32+10G>C	--	NM_001271803.2 M	SNV	LB	1 +	1
1944128	REEP2	c.360G>A	p.Arg120= (p.R120=)	NM_001271803.2 M	SNV	LB	1 +	1
2040390	REEP2	c.697-11T>C	--	NM_001271803.2 M	SNV	LB	1 +	1
1079897	REEP2	c.477C>T	p.Ile159= (p.I159=)	NM_001271803.2 M	SNV	LB	1 +	1
1915995	REEP2	c.696+11T>A	--	NM_001271803.2 M	SNV	LB	1 +	1
1962596	REEP2	c.432G>A	p.Leu144= (p.L144=)	NM_001271803.2 M	SNV	LB	1 +	1

152 Results, 20 per Page