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Gene: PRPH2 & Disease: Vitelliform Macular Dystrophy, 18 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
13170	PRPH2	c.514C>T	p.Arg172Trp (p.R172W)	NM_000322.5 M	SNV	P	10 +	33
973708	PRPH2	c.612C>A	p.Tyr204Ter (p.Y204X)	NM_000322.5 M	SNV	P	5 +	13
98713	PRPH2	c.828+3A>T	--	NM_000322.5 M	SNV	P	11 +	12
13173	PRPH2	c.629C>G	p.Pro210Arg (p.P210R)	NM_000322.5 M	SNV	P	7 +	11
98690	PRPH2	c.635G>C	p.Ser212Thr (p.S212T)	NM_000322.5 M	SNV	P	4 +	8
98686	PRPH2	c.628C>T	p.Pro210Ser (p.P210S)	NM_000322.5 M	SNV	P	2 +	7
866397	PRPH2	c.620A>G	p.Asp207Gly (p.D207G)	NM_000322.5 M	SNV	VUS	3 +	1
356777	PRPH2	c.649A>G	p.Ser217Gly (p.S217G)	NM_000322.5 M	SNV	LP	5 +	1
973731	PRPH2	c.974_977del	p.Lys325fs (p.K325fs)	NM_000322.5 M	Del	P	2 +	1
812384	PRPH2	c.808CTC[1]	p.Leu271Del (p.L271del)	NM_000322.5 M	MS	P	5 +	1
	PRPH2	c.811_813delCTC	--	NM_000322.5 M	MS	P	5 +	1
	PRPH2	c.811_813del	--	NM_000322.5 M	MS	P	5 +	1
866239	PRPH2	c.903_906del	p.Ser301fs (p.S301fs)	NM_000322.5 M	Del	P	4 +	1
813082	PRPH2	c.582-1G>C	--	NM_000322.5 M	SNV	P	2 +	0
356765	PRPH2	c.483_484dup	--	NM_000322.5 M	Dup	B	4 +	0
356767	PRPH2	c.468_469del	--	NM_000322.5 M	Del	VUS	4 +	0
356766	PRPH2	c.*484del	--	NM_000322.5 M	Del	LB	4 +	0
98717	PRPH2	c.904G>T	p.Glu302Ter (p.E302X)	NM_000322.5 M	SNV	P	3 +	0

18 Results, 20 per Page

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