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Gene: OTX2 & Disease: Fryns Microphthalmia Syndrome, 15 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1710330	OTX2	c.549T>G	p.Tyr183Ter (p.Y183X)	NM_021728.4 M	SNV	P	1 +	1
1710331	OTX2	c.588_591dup	p.Ala198fs (p.A198fs)	NM_021728.4 M	MS	P	1 +	1
430900	OTX2	c.296C>A	p.Ala99Asp (p.A99D)	NM_021728.4 M	SNV	P	1 +	1
1710330	OTX2	c.525T>G	p.Tyr175Ter (p.Y175X)	NM_001270523.2	SNV	P	1 +	1
	OTX2	c.525T>G	p.Tyr175Ter (p.Y175X)	NM_001270524.2	SNV	P	1 +	1
	OTX2	c.549T>G	p.Tyr183Ter (p.Y183X)	NM_001270525.2	SNV	P	1 +	1
	OTX2	c.525T>G	p.Tyr175Ter (p.Y175X)	NM_172337.3	SNV	P	1 +	1
1710331	OTX2	c.564_567dup	p.Ala190fs (p.A190fs)	NM_001270523.2	MS	P	1 +	1
	OTX2	c.564_567dup	p.Ala190fs (p.A190fs)	NM_001270524.2	MS	P	1 +	1
	OTX2	c.588_591dup	p.Ala198fs (p.A198fs)	NM_001270525.2	MS	P	1 +	1
	OTX2	c.564_567dup	p.Ala190fs (p.A190fs)	NM_172337.3	MS	P	1 +	1
430900	OTX2	c.272C>A	p.Ala91Asp (p.A91D)	NM_001270523.2	SNV	P	1 +	1
	OTX2	c.272C>A	p.Ala91Asp (p.A91D)	NM_001270524.2	SNV	P	1 +	1
	OTX2	c.296C>A	p.Ala99Asp (p.A99D)	NM_001270525.2	SNV	P	1 +	1
	OTX2	c.272C>A	p.Ala91Asp (p.A91D)	NM_172337.3	SNV	P	1 +	1

15 Results, 20 per Page

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