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Mutation Direct

Effortless mutation search and display tool

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Gene: GRIP1 & Disease: FRASRS3, 559 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
402210	GRIP1	c.160G>A	p.Val54Ile (p.V54I)	NM_001366722.1 M	SNV	LP	1 +	3
	GRIP1	c.160G>A	p.Val54Ile (p.V54I)	NM_001178074.2	SNV	LP	1 +	3
	GRIP1	c.238G>A	p.Val80Ile (p.V80I)	NM_001366723.1	SNV	LP	1 +	3
	GRIP1	c.238G>A	p.Val80Ile (p.V80I)	NM_001366724.1	SNV	LP	1 +	3
	GRIP1	c.160G>A	p.Val54Ile (p.V54I)	NM_021150.4	SNV	LP	1 +	3
714266	GRIP1	c.1791A>G	p.Gly597= (p.G597=)	NM_001366722.1 M	SNV	LB	1 +	2
310304	GRIP1	c.2283G>A	p.Ser761= (p.S761=)	NM_001366722.1 M	SNV	LB	1 +	2
310310	GRIP1	c.964G>A	p.Ala322Thr (p.A322T)	NM_001366722.1 M	SNV	B	1 +	2
724012	GRIP1	c.2886G>A	p.Pro962= (p.P962=)	NM_001366722.1 M	SNV	LB	1 +	2
227419	GRIP1	c.2381T>G	p.Met794Arg (p.M794R)	NM_001366722.1 M	SNV	LB	1 +	2
1696374	GRIP1	c.1785A>C	p.Lys595Asn (p.K595N)	NM_001366722.1 M	SNV	VUS	1 +	2
787100	GRIP1	c.579-8C>T	--	NM_001366722.1 M	SNV	LB	1 +	2
716991	GRIP1	c.55+9C>A	--	NM_001366722.1 M	SNV	LB	1 +	2
198899	GRIP1	c.817T>C	p.Cys273Arg (p.C273R)	NM_001366722.1 M	SNV	VUS	1 +	2
718093	GRIP1	c.162C>T	p.Val54= (p.V54=)	NM_001366722.1 M	SNV	LB	1 +	2
497434	GRIP1	c.1199-7C>G	--	NM_001366722.1 M	SNV	LB	1 +	2
261412	GRIP1	c.503-15C>A	--	NM_001366722.1 M	SNV	B	2 +	2
261413	GRIP1	c.724+10G>A	--	NM_001366722.1 M	SNV	B	2 +	2
261409	GRIP1	c.1838+13G>T	--	NM_001366722.1 M	SNV	B	2 +	2
261411	GRIP1	c.2464+15T>C	--	NM_001366722.1 M	SNV	B	2 +	2

559 Results, 20 per Page

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