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Gene: RAB3GAP1 & Disease: WARBM1, 234 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
7058	RAB3GAP1	c.748+1G>A	--	NM_012233.3 M	SNV	P	1 +	9
7058	RAB3GAP1	c.748+1G>A	--	NM_001172435.2	SNV	P	1 +	9
436467	RAB3GAP1	c.2946A>G	p.Ter982Trp (p.X982W)	NM_012233.3 M	SNV	VUS	2 +	3
130067	RAB3GAP1	c.2265T>C	p.Phe755= (p.F755=)	NM_012233.3 M	SNV	LB	2 +	3
7059	RAB3GAP1	c.2011C>T	p.Arg671Ter (p.R671X)	NM_012233.3 M	SNV	P	1 +	3
130064	RAB3GAP1	c.1793A>G	p.Asn598Ser (p.N598S)	NM_012233.3 M	SNV	LB	2 +	3
130062	RAB3GAP1	c.1226C>T	p.Thr409Ile (p.T409I)	NM_012233.3 M	SNV	VUS	2 +	3
191126	RAB3GAP1	c.1009C>T	p.Arg337Ter (p.R337X)	NM_012233.3 M	SNV	P	1 +	3
100769	RAB3GAP1	c.899+1G>A	--	NM_012233.3 M	SNV	P	1 +	3
130072	RAB3GAP1	c.913A>G	p.Ile305Val (p.I305V)	NM_012233.3 M	SNV	LB	1 +	3
130071	RAB3GAP1	c.669G>T	p.Leu223Phe (p.L223F)	NM_012233.3 M	SNV	B	1 +	3
7057	RAB3GAP1	c.649-2A>G	--	NM_012233.3 M	SNV	P	1 +	3
800891	RAB3GAP1	c.559C>T	p.Arg187Ter (p.R187X)	NM_012233.3 M	SNV	P	1 +	3
331121	RAB3GAP1	c.411C>T	p.Asp137= (p.D137=)	NM_012233.3 M	SNV	LB	1 +	3
130068	RAB3GAP1	c.2463C>T	p.Phe821= (p.F821=)	NM_012233.3 M	SNV	B	1 +	3
436467	RAB3GAP1	c.2967A>G	p.Ter989Trp (p.X989W)	NM_001172435.2	SNV	VUS	2 +	3
130067	RAB3GAP1	c.2265T>C	p.Phe755= (p.F755=)	NM_001172435.2	SNV	LB	2 +	3
7059	RAB3GAP1	c.2011C>T	p.Arg671Ter (p.R671X)	NM_001172435.2	SNV	P	1 +	3
130064	RAB3GAP1	c.1793A>G	p.Asn598Ser (p.N598S)	NM_001172435.2	SNV	LB	2 +	3
130062	RAB3GAP1	c.1226C>T	p.Thr409Ile (p.T409I)	NM_001172435.2	SNV	VUS	2 +	3

234 Results, 20 per Page

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