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Gene: EIF2S3 & Disease: MEHMO, 13 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
265789	EIF2S3	c.1394_1397del	p.Ile465fs (p.I465fs)	NM_001415.4 M	Del	P	1 +	2
1065472	EIF2S3	c.1403C>G	p.Thr468Arg (p.T468R)	NM_001415.4 M	SNV	VUS	1 +	1
1878657	EIF2S3	c.1046G>A	p.Arg349Gln (p.R349Q)	NM_001415.4 M	SNV	P	1 +	1
265790	EIF2S3	c.324T>A	p.Ser108Arg (p.S108R)	NM_001415.4 M	SNV	P	1 +	1
267206	EIF2S3	c.777T>G	p.Ile259Met (p.I259M)	NM_001415.4 M	SNV	P	1 +	1
267205	EIF2S3	c.665T>C	p.Ile222Thr (p.I222T)	NM_001415.4 M	SNV	P	1 +	1
1686856	EIF2S3	c.1294C>T	p.Pro432Ser (p.P432S)	NM_001415.4 M	SNV	P	1 +	1
804299	EIF2S3	c.433A>G	p.Met145Val (p.M145V)	NM_001415.4 M	SNV	LP	1 +	1
128994	EIF2S3	c.99C>T	p.His33= (p.H33=)	NM_001415.4 M	SNV	LB	1 +	1
1077096	EIF2S3	c.820C>G	p.Leu274Val (p.L274V)	NM_001415.4 M	SNV	LP	1 +	1
1033838	EIF2S3	c.1183-15A>G	--	NM_001415.4 M	SNV	VUS	1 +	1
2585434	EIF2S3	c.717A>G	p.Ile239Met (p.I239M)	NM_001415.4 M	SNV	VUS	1 +	1
488501	EIF2S3	c.431C>T	p.Thr144Ile (p.T144I)	NM_001415.4 M	SNV	LP	1 +	0

13 Results, 20 per Page

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