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Gene: SPG11 & Disease: Spastic Paraplegia 11, 4766 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1112	SPG11	c.733_734del	p.Met245fs (p.M245fs)	NM_025137.4 M	Del	P	6 +	20
	SPG11	c.733_734delAT	--	NM_025137.4 M	Del	P	6 +	20
	SPG11	c.733_734del	p.Met245fs (p.M245fs)	NM_001160227.2	Del	P	6 +	20
41315	SPG11	c.4307_4308del	p.Gln1436fs (p.Q1436fs)	NM_025137.4 M	Del	P	2 +	16
	SPG11	c.4307_4308delAA	--	NM_025137.4 M	Del	P	2 +	16
	SPG11	c.4307_4308del	p.Gln1436fs (p.Q1436fs)	NM_001160227.2	Del	P	2 +	16
41268	SPG11	c.1203del	p.Asp402fs (p.D402fs)	NM_025137.4 M	Del	P	2 +	12
41335	SPG11	c.5989_5992del	p.Leu1997fs (p.L1997fs)	NM_025137.4 M	MS	P	2 +	12
1109	SPG11	c.6100C>T	p.Arg2034Ter (p.R2034X)	NM_025137.4 M	SNV	P	3 +	12
41268	SPG11	c.1203del	p.Asp402fs (p.D402fs)	NM_001160227.2	Del	P	2 +	12
41335	SPG11	c.5867-2099_5867-2096del	--	NM_001160227.2	MS	P	2 +	12
1109	SPG11	c.5867-832C>T	--	NM_001160227.2	SNV	P	3 +	12
1114	SPG11	c.442+1G>C	--	NM_025137.4 M	SNV	P	2 +	11
41288	SPG11	c.2316+1G>A	--	NM_025137.4 M	SNV	P	3 +	11
1117	SPG11	c.3075dupA	--	NM_025137.4 M	Dup	P	4 +	11
	SPG11	c.3075dup	p.Glu1026fs (p.E1026fs)	NM_025137.4 M	Dup	P	4 +	11
	SPG11	c.3075_3076insA	--	NM_025137.4 M	Dup	P	4 +	11
41327	SPG11	c.5769del	p.Ser1923fs (p.S1923fs)	NM_025137.4 M	Del	P	4 +	11
41340	SPG11	c.6091C>T	p.Arg2031Ter (p.R2031X)	NM_025137.4 M	SNV	P	5 +	11
1114	SPG11	c.442+1G>C	--	NM_001411132.1	SNV	P	2 +	11

4766 Results, 20 per Page

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