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Gene: SLC2A1 & Disease: EIG12, 32 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
198842	SLC2A1	c.997C>T	p.Arg333Trp (p.R333W)	NM_006516.4 M	SNV	P	7 +	14
207193	SLC2A1	c.667C>T	p.Arg223Trp (p.R223W)	NM_006516.4 M	SNV	P	7 +	8
662199	SLC2A1	c.101A>G	p.Asn34Ser (p.N34S)	NM_006516.4 M	SNV	P	7 +	5
381541	SLC2A1	c.844C>T	p.Gln282Ter (p.Q282X)	NM_006516.4 M	SNV	P	1 +	4
96708	SLC2A1	c.1372C>T	p.Arg458Trp (p.R458W)	NM_006516.4 M	SNV	P	7 +	3
985526	SLC2A1	c.152G>A	p.Arg51His (p.R51H)	NM_006516.4 M	SNV	VUS	7 +	2
1046974	SLC2A1	c.679+5G>A	--	NM_006516.4 M	SNV	VUS	7 +	2
96709	SLC2A1	c.1232A>G	p.Asn411Ser (p.N411S)	NM_006516.4 M	SNV	P	1 +	2
39702	SLC2A1	c.668G>C	p.Arg223Pro (p.R223P)	NM_006516.4 M	SNV	VUS	1 +	2
623683	SLC2A1	c.695G>A	p.Arg232His (p.R232H)	NM_006516.4 M	SNV	LP	1 +	2
198843	SLC2A1	c.1016T>C	p.Ile339Thr (p.I339T)	NM_006516.4 M	SNV	LB	7 +	1
207225	SLC2A1	c.19-2A>G	--	NM_006516.4 M	SNV	P	7 +	1
37301	SLC2A1	c.694C>T	p.Arg232Cys (p.R232C)	NM_006516.4 M	SNV	P	1 +	1
538683	SLC2A1	c.19-5C>T	--	NM_006516.4 M	SNV	LB	1 +	0
1699946	SLC2A1	c.679+1G>A	--	NM_006516.4 M	SNV	LP	1 +	0
198844	SLC2A1	c.1006C>G	p.Leu336Val (p.L336V)	NM_006516.4 M	SNV	VUS	1 +	0
471348	SLC2A1	c.697G>A	p.Gly233Arg (p.G233R)	NM_006516.4 M	SNV	VUS	7 +	0
207180	SLC2A1	c.258C>T	p.Phe86= (p.F86=)	NM_006516.4 M	SNV	LB	7 +	0
207189	SLC2A1	c.313G>A	p.Val105Met (p.V105M)	NM_006516.4 M	SNV	LB	7 +	0
516467	SLC2A1	c.903G>A	p.Ala301= (p.A301=)	NM_006516.4 M	SNV	LB	7 +	0

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