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Mutation Direct

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Gene: LMNB1 & Disease: MCPH26, 20 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
915455	LMNB1	c.97A>G	p.Lys33Glu (p.K33E)	NM_005573.4 M	SNV	P	1 +	2
915455	LMNB1	c.-272+361A>G	--	NM_001198557.2	SNV	P	1 +	2
915456	LMNB1	c.124C>T	p.Arg42Trp (p.R42W)	NM_005573.4 M	SNV	P	1 +	1
915457	LMNB1	c.939+1G>A	--	NM_005573.4 M	SNV	P	1 +	1
915458	LMNB1	c.939+2362_1491+560del	--	NM_005573.4 M	Del	P	1 +	1
997433	LMNB1	c.269G>C	p.Arg90Pro (p.R90P)	NM_005573.4 M	SNV	P	1 +	1
915454	LMNB1	c.455C>G	p.Ala152Gly (p.A152G)	NM_005573.4 M	SNV	P	1 +	1
915456	LMNB1	c.-272+388C>T	--	NM_001198557.2	SNV	P	1 +	1
915457	LMNB1	c.309+1G>A	--	NM_001198557.2	SNV	P	1 +	1
915458	LMNB1	c.309+2362_861+560del	--	NM_001198557.2	Del	P	1 +	1
997433	LMNB1	c.-272+533G>C	--	NM_001198557.2	SNV	P	1 +	1
915454	LMNB1	c.-176C>G	--	NM_001198557.2	SNV	P	1 +	1
2443339	LMNB1	c.455C>T	p.Ala152Val (p.A152V)	NM_005573.4 M	SNV	LB	1 +	0
1170530	LMNB1	c.360-19C>T	--	NM_005573.4 M	SNV	LB	3 +	0
1339183	LMNB1	c.1138C>T	p.Leu380Phe (p.L380F)	NM_005573.4 M	SNV	VUS	1 +	0
2444231	LMNB1	c.814-1G>T	--	NM_005573.4 M	SNV	LP	1 +	0
2443339	LMNB1	c.-176C>T	--	NM_001198557.2	SNV	LB	1 +	0
1170530	LMNB1	c.-271-19C>T	--	NM_001198557.2	SNV	LB	3 +	0
1339183	LMNB1	c.508C>T	p.Leu170Phe (p.L170F)	NM_001198557.2	SNV	VUS	1 +	0
2444231	LMNB1	c.184-1G>T	--	NM_001198557.2	SNV	LP	1 +	0

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