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Gene: LSS & Disease: APMR4, 88 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
834067	LSS	c.1194+5G>A	--	NM_002340.6 M	SNV	P	1 +	3
1256057	LSS	c.647G>A	p.Trp216Ter (p.W216X)	NM_002340.6 M	SNV	P	2 +	3
834067	LSS	c.1161+5G>A	--	NM_001145436.2	SNV	P	1 +	3
	LSS	c.1194+5G>A	--	NM_001001438.3	SNV	P	1 +	3
	LSS	c.954+5G>A	--	NM_001145437.2	SNV	P	1 +	3
1256057	LSS	c.647G>A	p.Trp216Ter (p.W216X)	NM_001001438.3	SNV	P	2 +	3
	LSS	c.614G>A	p.Trp205Ter (p.W205X)	NM_001145436.2	SNV	P	2 +	3
	LSS	c.407G>A	p.Trp136Ter (p.W136X)	NM_001145437.2	SNV	P	2 +	3
783885	LSS	c.752C>T	p.Ala251Val (p.A251V)	NM_002340.6 M	SNV	LB	3 +	2
1201735	LSS	c.181-27dup	--	NM_002340.6 M	Dup	LB	3 +	2
1256056	LSS	c.857A>G	p.Tyr286Cys (p.Y286C)	NM_002340.6 M	SNV	LP	2 +	2
1287852	LSS	c.181-16_181-15del	--	NM_002340.6 M	Del	B	2 +	2
677172	LSS	c.551-6G>C	--	NM_002340.6 M	SNV	B	2 +	2
677173	LSS	c.784-6C>T	--	NM_002340.6 M	SNV	B	2 +	2
677174	LSS	c.864G>C	p.Pro288= (p.P288=)	NM_002340.6 M	SNV	B	2 +	2
677175	LSS	c.1924T>G	p.Leu642Val (p.L642V)	NM_002340.6 M	SNV	B	2 +	2
783885	LSS	c.752C>T	p.Ala251Val (p.A251V)	NM_001001438.3	SNV	LB	3 +	2
	LSS	c.719C>T	p.Ala240Val (p.A240V)	NM_001145436.2	SNV	LB	3 +	2
	LSS	c.512C>T	p.Ala171Val (p.A171V)	NM_001145437.2	SNV	LB	3 +	2
1201735	LSS	c.181-27dup	--	NM_001145436.2	Dup	LB	3 +	2

88 Results, 20 per Page

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