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Gene: IGF2 & Disease: SRS1, 15 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
253036	IGF2	c.78C>G	p.Tyr26Ter (p.Y26X)	NM_000612.6 M	SNV	P	1 +	1
976061	IGF2	c.100G>T	p.Gly34Cys (p.G34C)	NM_000612.6 M	SNV	LP	4 +	1
253298	IGF2	c.157+1_157+2insGC	--	NM_000612.6 M	Ins	P	1 +	1
253036	IGF2	c.78C>G	p.Tyr26Ter (p.Y26X)	NM_001007139.6	SNV	P	1 +	1
	IGF2	c.246C>G	p.Tyr82Ter (p.Y82X)	NM_001127598.3	SNV	P	1 +	1
	IGF2	c.78C>G	p.Tyr26Ter (p.Y26X)	NM_001291861.3	SNV	P	1 +	1
	IGF2	c.78C>G	p.Tyr26Ter (p.Y26X)	NM_001291862.3	SNV	P	1 +	1
976061	IGF2	c.100G>T	p.Gly34Cys (p.G34C)	NM_001007139.6	SNV	LP	4 +	1
	IGF2	c.268G>T	p.Gly90Cys (p.G90C)	NM_001127598.3	SNV	LP	4 +	1
	IGF2	c.100G>T	p.Gly34Cys (p.G34C)	NM_001291861.3	SNV	LP	4 +	1
	IGF2	c.100G>T	p.Gly34Cys (p.G34C)	NM_001291862.3	SNV	LP	4 +	1
253298	IGF2	c.157+1_157+2insGC	--	NM_001007139.6	Ins	P	1 +	1
	IGF2	c.157+1_157+2insGC	--	NM_001291862.3	Ins	P	1 +	1
	IGF2	c.325+1_325+2insGC	--	NM_001127598.3	Ins	P	1 +	1
	IGF2	c.157+1_157+2insGC	--	NM_001291861.3	Ins	P	1 +	1

15 Results, 20 per Page

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