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Gene: CTSF & Disease: CLN13, 85 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
265519	CTSF	c.1046-2A>C	--	NM_003793.4 M	SNV	LP	1 +	4
259166	CTSF	c.126C>T	p.Pro42= (p.P42=)	NM_003793.4 M	SNV	LB	1 +	3
259167	CTSF	c.1368C>T	p.Asp456= (p.D456=)	NM_003793.4 M	SNV	LB	1 +	3
259169	CTSF	c.219T>C	p.Gly73= (p.G73=)	NM_003793.4 M	SNV	B	1 +	3
259171	CTSF	c.722-5C>T	--	NM_003793.4 M	SNV	B	1 +	3
259172	CTSF	c.762G>A	p.Arg254= (p.R254=)	NM_003793.4 M	SNV	B	1 +	3
259173	CTSF	c.939G>A	p.Gly313= (p.G313=)	NM_003793.4 M	SNV	LB	1 +	3
259168	CTSF	c.1401T>C	p.Arg467= (p.R467=)	NM_003793.4 M	SNV	B	1 +	3
585732	CTSF	c.19C>T	p.Leu7Phe (p.L7F)	NM_003793.4 M	SNV	VUS	1 +	2
1216529	CTSF	c.1322-19G>A	--	NM_003793.4 M	SNV	LB	1 +	2
424983	CTSF	c.683C>G	p.Thr228Arg (p.T228R)	NM_003793.4 M	SNV	LB	1 +	2
2417211	CTSF	c.594T>A	p.Tyr198Ter (p.Y198X)	NM_003793.4 M	SNV	P	1 +	2
587844	CTSF	c.1158C>T	p.Asn386= (p.N386=)	NM_003793.4 M	SNV	LB	1 +	2
259170	CTSF	c.458A>G	p.Gln153Arg (p.Q153R)	NM_003793.4 M	SNV	LB	1 +	2
1491051	CTSF	c.722-3C>A	--	NM_003793.4 M	SNV	VUS	1 +	2
775294	CTSF	c.597G>A	p.Glu199= (p.E199=)	NM_003793.4 M	SNV	LB	1 +	2
588044	CTSF	c.200_205dup	p.Gly67_Arg68dup	NM_003793.4 M	Dup	LB	1 +	2
590130	CTSF	c.130C>T	p.Arg44Cys (p.R44C)	NM_003793.4 M	SNV	LB	1 +	2
1382735	CTSF	c.160C>A	p.Arg54= (p.R54=)	NM_003793.4 M	SNV	LB	1 +	2
2101778	CTSF	c.1166-7A>G	--	NM_003793.4 M	SNV	LB	1 +	1

85 Results, 20 per Page

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