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Gene: NPRL2 & Disease: FFEVF2, 27 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
254362	NPRL2	c.100C>T	p.Arg34Ter (p.R34X)	NM_006545.5 M	SNV	P	1 +	6
254365	NPRL2	c.68_69del	p.Ile23fs (p.I23fs)	NM_006545.5 M	Del	P	1 +	1
1804017	NPRL2	c.232C>T	p.Arg78Cys (p.R78C)	NM_006545.5 M	SNV	LP	1 +	1
254364	NPRL2	c.314T>C	p.Leu105Pro (p.L105P)	NM_006545.5 M	SNV	P	1 +	1
254363	NPRL2	c.883C>T	p.Arg295Ter (p.R295X)	NM_006545.5 M	SNV	P	1 +	1
2434427	NPRL2	c.158A>G	p.Lys53Arg (p.K53R)	NM_006545.5 M	SNV	VUS	1 +	0
2442080	NPRL2	c.260T>C	p.Phe87Ser (p.F87S)	NM_006545.5 M	SNV	VUS	1 +	0
1339827	NPRL2	c.213C>G	p.Ile71Met (p.I71M)	NM_006545.5 M	SNV	VUS	1 +	0
1199190	NPRL2	c.472A>G	p.Lys158Glu (p.K158E)	NM_006545.5 M	SNV	VUS	1 +	0
625281	NPRL2	c.233G>T	p.Arg78Leu (p.R78L)	NM_006545.5 M	SNV	VUS	1 +	0
931493	NPRL2	c.491dup	p.Asp165fs (p.D165fs)	NM_006545.5 M	Dup	LP	1 +	0
692035	NPRL2	c.445_448+3del	--	NM_006545.5 M	Del	LP	1 +	0
1325804	NPRL2	c.586-3C>A	--	NM_006545.5 M	SNV	VUS	1 +	0
548578	NPRL2	c.602A>C	p.Asp201Ala (p.D201A)	NM_006545.5 M	SNV	VUS	1 +	0
1696508	NPRL2	c.562C>T	p.Gln188Ter (p.Q188X)	NM_006545.5 M	SNV	LP	1 +	0
2434425	NPRL2	c.684-6_684-3del	--	NM_006545.5 M	MS	VUS	1 +	0
2434425	NPRL2	c.684-12TC[3]	--	NM_006545.5 M	MS	VUS	1 +	0
1251968	NPRL2	c.661C>T	p.Arg221Cys (p.R221C)	NM_006545.5 M	SNV	VUS	1 +	0
1342320	NPRL2	c.694G>A	p.Val232Ile (p.V232I)	NM_006545.5 M	SNV	LB	1 +	0
2434429	NPRL2	c.728A>G	p.Asn243Ser (p.N243S)	NM_006545.5 M	SNV	VUS	1 +	0

27 Results, 20 per Page

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