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Gene: ASPM & Disease: MCPH, 16 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
21582	ASPM	c.3796G>T	p.Glu1266Ter (p.E1266X)	NM_018136.5 M	SNV	P	3 +	6
21582	ASPM	c.3796G>T	p.Glu1266Ter (p.E1266X)	NM_001206846.2	SNV	P	3 +	6
4960	ASPM	c.9178C>T	p.Gln3060Ter (p.Q3060X)	NM_018136.5 M	SNV	P	2 +	5
4960	ASPM	c.4423C>T	p.Gln1475Ter (p.Q1475X)	NM_001206846.2	SNV	P	2 +	5
452686	ASPM	c.9294+2T>C	--	NM_018136.5 M	SNV	LP	2 +	4
452686	ASPM	c.4539+2T>C	--	NM_001206846.2	SNV	LP	2 +	4
157867	ASPM	c.7160_7161del	p.Ser2387fs (p.S2387fs)	NM_018136.5 M	MS	P	2 +	2
157867	ASPM	c.4066-5927_4066-5926del	--	NM_001206846.2	MS	P	2 +	2
157795	ASPM	c.2419+2T>C	--	NM_018136.5 M	SNV	P	2 +	1
157795	ASPM	c.2419+2T>C	--	NM_001206846.2	SNV	P	2 +	1
517208	ASPM	c.4720C>T	p.Gln1574Ter (p.Q1574X)	NM_018136.5 M	SNV	LP	1 +	0
1679322	ASPM	c.4995T>A	p.Tyr1665Ter (p.Y1665X)	NM_018136.5 M	SNV	LP	2 +	0
2581671	ASPM	c.8195_8196del	p.Arg2732fs (p.R2732fs)	NM_018136.5 M	Del	P	1 +	0
517208	ASPM	c.4066-8367C>T	--	NM_001206846.2	SNV	LP	1 +	0
1679322	ASPM	c.4066-8092T>A	--	NM_001206846.2	SNV	LP	2 +	0
2581671	ASPM	c.4066-4892_4066-4891del	--	NM_001206846.2	Del	P	1 +	0

16 Results, 20 per Page

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