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Gene: UBQLN2 & Disease: ALS15, 100 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
157594	UBQLN2	c.1490C>T	p.Pro497Leu (p.P497L)	NM_013444.4 M	SNV	P	2 +	5
29950	UBQLN2	c.1490C>A	p.Pro497His (p.P497H)	NM_013444.4 M	SNV	P	2 +	4
29951	UBQLN2	c.1489C>T	p.Pro497Ser (p.P497S)	NM_013444.4 M	SNV	P	2 +	4
29954	UBQLN2	c.1573C>T	p.Pro525Ser (p.P525S)	NM_013444.4 M	SNV	P	3 +	4
29953	UBQLN2	c.1525C>T	p.Pro509Ser (p.P509S)	NM_013444.4 M	SNV	P	2 +	3
1500447	UBQLN2	c.1490C>G	p.Pro497Arg (p.P497R)	NM_013444.4 M	SNV	VUS	2 +	3
368609	UBQLN2	c.1383G>A	p.Gly461= (p.G461=)	NM_013444.4 M	SNV	LB	2 +	3
260311	UBQLN2	c.1461C>A	p.Thr487= (p.T487=)	NM_013444.4 M	SNV	LB	2 +	2
1607950	UBQLN2	c.1019G>T	p.Ser340Ile (p.S340I)	NM_013444.4 M	SNV	LB	2 +	2
1910274	UBQLN2	c.138C>T	p.Phe46= (p.F46=)	NM_013444.4 M	SNV	LB	2 +	1
2061827	UBQLN2	c.1569C>T	p.Ala523= (p.A523=)	NM_013444.4 M	SNV	LB	2 +	1
1357319	UBQLN2	c.1279C>G	p.Arg427Gly (p.R427G)	NM_013444.4 M	SNV	VUS	2 +	1
1433104	UBQLN2	c.56C>T	p.Ala19Val (p.A19V)	NM_013444.4 M	SNV	VUS	2 +	1
2170914	UBQLN2	c.648G>T	p.Gln216His (p.Q216H)	NM_013444.4 M	SNV	VUS	2 +	1
1515048	UBQLN2	c.21C>G	p.Ser7Arg (p.S7R)	NM_013444.4 M	SNV	VUS	2 +	1
761897	UBQLN2	c.1852C>T	p.Leu618= (p.L618=)	NM_013444.4 M	SNV	LB	2 +	1
1552428	UBQLN2	c.1329A>G	p.Leu443= (p.L443=)	NM_013444.4 M	SNV	LB	2 +	1
1397296	UBQLN2	c.1595G>A	p.Gly532Asp (p.G532D)	NM_013444.4 M	SNV	VUS	2 +	1
2127416	UBQLN2	c.1173C>T	p.Tyr391= (p.Y391=)	NM_013444.4 M	SNV	B	2 +	1
2169931	UBQLN2	c.49C>T	p.Pro17Ser (p.P17S)	NM_013444.4 M	SNV	VUS	2 +	1

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