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Gene: LZTR1 & Disease: Noonan Syndrome and Noonan-Related Syndrome, 43 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
289969	LZTR1	c.1084C>T	p.Arg362Ter (p.R362X)	NM_006767.4 M	SNV	P	5 +	13
101038	LZTR1	c.1397G>A	p.Arg466Gln (p.R466Q)	NM_006767.4 M	SNV	P	3 +	9
561716	LZTR1	c.848G>A	p.Arg283Gln (p.R283Q)	NM_006767.4 M	SNV	P	4 +	5
379423	LZTR1	c.2253C>T	p.Phe751= (p.F751=)	NM_006767.4 M	SNV	B	1 +	3
379653	LZTR1	c.2160C>T	p.Phe720= (p.F720=)	NM_006767.4 M	SNV	B	1 +	3
372993	LZTR1	c.344C>T	p.Pro115Leu (p.P115L)	NM_006767.4 M	SNV	VUS	1 +	3
373089	LZTR1	c.1234C>T	p.Arg412Cys (p.R412C)	NM_006767.4 M	SNV	P	5 +	3
516186	LZTR1	c.1530C>T	p.His510= (p.H510=)	NM_006767.4 M	SNV	LB	1 +	2
516328	LZTR1	c.453C>T	p.Asp151= (p.D151=)	NM_006767.4 M	SNV	LB	1 +	2
934586	LZTR1	c.488C>T	p.Thr163Met (p.T163M)	NM_006767.4 M	SNV	VUS	1 +	2
705698	LZTR1	c.263+7G>A	--	NM_006767.4 M	SNV	LB	1 +	2
976556	LZTR1	c.2130C>T	p.Ile710= (p.I710=)	NM_006767.4 M	SNV	LB	1 +	2
379759	LZTR1	c.1962C>T	p.Asp654= (p.D654=)	NM_006767.4 M	SNV	B	1 +	2
445791	LZTR1	c.1353+8C>G	--	NM_006767.4 M	SNV	LB	1 +	2
929193	LZTR1	c.351C>T	p.Pro117= (p.P117=)	NM_006767.4 M	SNV	LB	1 +	2
839110	LZTR1	c.905C>T	p.Ala302Val (p.A302V)	NM_006767.4 M	SNV	VUS	1 +	2
561625	LZTR1	c.2187C>T	p.Tyr729= (p.Y729=)	NM_006767.4 M	SNV	LB	1 +	2
512518	LZTR1	c.2103C>T	p.Pro701= (p.P701=)	NM_006767.4 M	SNV	LB	1 +	2
512517	LZTR1	c.2007C>T	p.Ile669= (p.I669=)	NM_006767.4 M	SNV	LB	1 +	2
561796	LZTR1	c.2022C>T	p.Asp674= (p.D674=)	NM_006767.4 M	SNV	LB	1 +	2

43 Results, 20 per Page

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