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Gene: EIF2B3 & Disease: VWM3, 15 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
4439	EIF2B3	c.260C>T	p.Ala87Val (p.A87V)	NM_020365.5 M	SNV	P	3 +	6
	EIF2B3	c.260C>T	p.Ala87Val (p.A87V)	NM_001166588.3	SNV	P	3 +	6
	EIF2B3	c.260C>T	p.Ala87Val (p.A87V)	NM_001261418.2	SNV	P	3 +	6
4437	EIF2B3	c.674G>A	p.Arg225Gln (p.R225Q)	NM_020365.5 M	SNV	P	1 +	5
	EIF2B3	c.674G>A	p.Arg225Gln (p.R225Q)	NM_001166588.3	SNV	P	1 +	5
	EIF2B3	c.674G>A	p.Arg225Gln (p.R225Q)	NM_001261418.2	SNV	P	1 +	5
4440	EIF2B3	c.1037T>C	p.Ile346Thr (p.I346T)	NM_020365.5 M	SNV	P	3 +	2
	EIF2B3	c.1037T>C	p.Ile346Thr (p.I346T)	NM_001166588.3	SNV	P	3 +	2
	EIF2B3	c.1037T>C	p.Ile346Thr (p.I346T)	NM_001261418.2	SNV	P	3 +	2
40179	EIF2B3	c.80T>A	p.Leu27Gln (p.L27Q)	NM_020365.5 M	SNV	P	1 +	1
4438	EIF2B3	c.1193_1194del	p.Val398fs (p.V398fs)	NM_020365.5 M	MS	P	1 +	1
40179	EIF2B3	c.80T>A	p.Leu27Gln (p.L27Q)	NM_001166588.3	SNV	P	1 +	1
40179	EIF2B3	c.80T>A	p.Leu27Gln (p.L27Q)	NM_001261418.2	SNV	P	1 +	1
4438	EIF2B3	c.1193_1194del	p.Val398fs (p.V398fs)	NM_001166588.3	MS	P	1 +	1
4438	EIF2B3	c.1193_1194del	p.Val398fs (p.V398fs)	NM_001261418.2	MS	P	1 +	1

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