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Gene: PNPO & Disease: PNPOD, 259 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
206446	PNPO	c.481C>T	p.Arg161Cys (p.R161C)	NM_018129.4 M	SNV	P	1 +	9
206450	PNPO	c.673C>T	p.Arg225Cys (p.R225C)	NM_018129.4 M	SNV	P	1 +	9
6523	PNPO	c.685C>T	p.Arg229Trp (p.R229W)	NM_018129.4 M	SNV	P	1 +	9
658245	PNPO	c.657G>A	p.Trp219Ter (p.W219X)	NM_018129.4 M	SNV	LP	1 +	8
206458	PNPO	c.98A>T	p.Asp33Val (p.D33V)	NM_018129.4 M	SNV	P	1 +	6
206452	PNPO	c.686G>A	p.Arg229Gln (p.R229Q)	NM_018129.4 M	SNV	P	1 +	6
1059361	PNPO	c.482G>A	p.Arg161His (p.R161H)	NM_018129.4 M	SNV	VUS	1 +	5
206440	PNPO	c.148G>A	p.Glu50Lys (p.E50K)	NM_018129.4 M	SNV	VUS	1 +	5
1297019	PNPO	c.283C>T	p.Arg95Cys (p.R95C)	NM_018129.4 M	SNV	P	1 +	5
223153	PNPO	c.674G>A	p.Arg225His (p.R225H)	NM_018129.4 M	SNV	P	4 +	5
206460	PNPO	c.448_451del	p.Pro150fs (p.P150fs)	NM_018129.4 M	Del	P	1 +	4
1412292	PNPO	c.263+1G>C	--	NM_018129.4 M	SNV	P	1 +	4
849386	PNPO	c.284G>A	p.Arg95His (p.R95H)	NM_018129.4 M	SNV	P	1 +	4
1467523	PNPO	c.547-2A>T	--	NM_018129.4 M	SNV	LP	1 +	3
409830	PNPO	c.264-2A>G	--	NM_018129.4 M	SNV	LP	1 +	3
836375	PNPO	c.413G>A	p.Arg138His (p.R138H)	NM_018129.4 M	SNV	VUS	1 +	3
129980	PNPO	c.165C>T	p.Ser55= (p.S55=)	NM_018129.4 M	SNV	LB	1 +	3
2138063	PNPO	c.421C>T	p.Arg141Cys (p.R141C)	NM_018129.4 M	SNV	VUS	1 +	3
2166298	PNPO	c.264-3T>C	--	NM_018129.4 M	SNV	VUS	1 +	2
589871	PNPO	c.697C>T	p.Arg233Trp (p.R233W)	NM_018129.4 M	SNV	VUS	1 +	2

259 Results, 20 per Page

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