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Gene: HGSNAT & Disease: RP, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
208816	HGSNAT	c.1843G>A	p.Ala615Thr (p.A615T)	NM_152419.3 M	SNV	P	5 +	19
	HGSNAT	c.1930G>A	p.Ala644Thr (p.A644T)	NM_001363227.2	SNV	P	5 +	19
	HGSNAT	c.1651G>A	p.Ala551Thr (p.A551T)	NM_001363228.2	SNV	P	5 +	19
	HGSNAT	c.979G>A	p.Ala327Thr (p.A327T)	NM_001363229.2	SNV	P	5 +	19
964233	HGSNAT	c.1565C>T	p.Thr522Met (p.T522M)	NM_152419.3 M	SNV	VUS	4 +	2
	HGSNAT	c.1652C>T	p.Thr551Met (p.T551M)	NM_001363227.2	SNV	VUS	4 +	2
	HGSNAT	c.1373C>T	p.Thr458Met (p.T458M)	NM_001363228.2	SNV	VUS	4 +	2
	HGSNAT	c.701C>T	p.Thr234Met (p.T234M)	NM_001363229.2	SNV	VUS	4 +	2
208815	HGSNAT	c.370A>T	p.Arg124Trp (p.R124W)	NM_152419.3 M	SNV	P	5 +	1
	HGSNAT	c.370A>T	p.Arg124Trp (p.R124W)	NM_001363227.2	SNV	P	5 +	1
	HGSNAT	c.370A>T	p.Arg124Trp (p.R124W)	NM_001363228.2	SNV	P	5 +	1
	HGSNAT	c.-464A>T	--	NM_001363229.2	SNV	P	5 +	1

12 Results, 20 per Page

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