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Gene: CYP7B1 & Disease: Spastic Paraplegia Type 5a, 138 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
6103	CYP7B1	c.1250G>A	p.Arg417His (p.R417H)	NM_004820.5 M	SNV	P	3 +	14
6107	CYP7B1	c.1456C>T	p.Arg486Cys (p.R486C)	NM_004820.5 M	SNV	P	4 +	14
6103	CYP7B1	c.1234-7069G>A	--	NM_001324112.2	SNV	P	3 +	14
6107	CYP7B1	c.1234-6863C>T	--	NM_001324112.2	SNV	P	4 +	14
6105	CYP7B1	c.825T>A	p.Tyr275Ter (p.Y275X)	NM_004820.5 M	SNV	P	3 +	12
6105	CYP7B1	c.825T>A	p.Tyr275Ter (p.Y275X)	NM_001324112.2	SNV	P	3 +	12
225337	CYP7B1	c.259+2T>C	--	NM_004820.5 M	SNV	P	2 +	10
225337	CYP7B1	c.259+2T>C	--	NM_001324112.2	SNV	P	2 +	10
586668	CYP7B1	c.1249C>T	p.Arg417Cys (p.R417C)	NM_004820.5 M	SNV	P	2 +	9
363582	CYP7B1	c.971G>A	p.Arg324His (p.R324H)	NM_004820.5 M	SNV	LB	3 +	9
586668	CYP7B1	c.1234-7070C>T	--	NM_001324112.2	SNV	P	2 +	9
363582	CYP7B1	c.971G>A	p.Arg324His (p.R324H)	NM_001324112.2	SNV	LB	3 +	9
6100	CYP7B1	c.1162C>T	p.Arg388Ter (p.R388X)	NM_004820.5 M	SNV	P	3 +	8
6100	CYP7B1	c.1162C>T	p.Arg388Ter (p.R388X)	NM_001324112.2	SNV	P	3 +	8
849738	CYP7B1	c.650dup	p.Leu217fs (p.L217fs)	NM_004820.5 M	Dup	P	3 +	7
989025	CYP7B1	c.260-1G>A	--	NM_004820.5 M	SNV	P	2 +	7
849738	CYP7B1	c.650dup	p.Leu217fs (p.L217fs)	NM_001324112.2	Dup	P	3 +	7
989025	CYP7B1	c.260-1G>A	--	NM_001324112.2	SNV	P	2 +	7
120179	CYP7B1	c.889A>G	p.Thr297Ala (p.T297A)	NM_004820.5 M	SNV	P	2 +	4
409026	CYP7B1	c.1286dup	p.Lys430fs (p.K430fs)	NM_004820.5 M	Dup	P	3 +	4

138 Results, 20 per Page

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