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Gene: PNP & Disease: PNPD, 191 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
636509	PNP	c.769C>G	p.His257Asp (p.H257D)	NM_000270.4 M	SNV	P	1 +	4
13989	PNP	c.520G>C	p.Ala174Pro (p.A174P)	NM_000270.4 M	SNV	P	1 +	4
13988	PNP	c.265G>A	p.Glu89Lys (p.E89K)	NM_000270.4 M	SNV	P	1 +	4
505116	PNP	c.286-18G>A	--	NM_000270.4 M	SNV	P	1 +	4
1458553	PNP	c.700C>T	p.Arg234Ter (p.R234X)	NM_000270.4 M	SNV	P	1 +	4
1344922	PNP	c.199C>T	p.Arg67Ter (p.R67X)	NM_000270.4 M	SNV	P	1 +	4
1000043	PNP	c.701G>A	p.Arg234Gln (p.R234Q)	NM_000270.4 M	SNV	VUS	1 +	3
13991	PNP	c.701G>C	p.Arg234Pro (p.R234P)	NM_000270.4 M	SNV	P	2 +	3
13990	PNP	c.383A>G	p.Asp128Gly (p.D128G)	NM_000270.4 M	SNV	P	1 +	3
845655	PNP	c.751del	p.Ser251fs (p.S251fs)	NM_000270.4 M	Del	P	1 +	3
312730	PNP	c.285+10A>G	--	NM_000270.4 M	SNV	B	1 +	3
861659	PNP	c.181G>T	p.Val61Leu (p.V61L)	NM_000270.4 M	SNV	LP	1 +	3
138729	PNP	c.60C>T	p.His20= (p.H20=)	NM_000270.4 M	SNV	B	1 +	3
138730	PNP	c.171C>T	p.Pro57= (p.P57=)	NM_000270.4 M	SNV	B	1 +	3
1024538	PNP	c.461+3A>G	--	NM_000270.4 M	SNV	VUS	1 +	2
1348177	PNP	c.11+3G>A	--	NM_000270.4 M	SNV	VUS	1 +	2
13995	PNP	c.70C>T	p.Arg24Ter (p.R24X)	NM_000270.4 M	SNV	P	1 +	2
565932	PNP	c.461G>A	p.Arg154Lys (p.R154K)	NM_000270.4 M	SNV	VUS	1 +	2
13996	PNP	c.172C>T	p.Arg58Ter (p.R58X)	NM_000270.4 M	SNV	P	1 +	2
2178845	PNP	c.182-2A>G	--	NM_000270.4 M	SNV	LP	1 +	2

191 Results, 20 per Page

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