Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: CLN6 & Disease: NCL, 588 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
68094	CLN6	c.150C>G	p.Tyr50Ter (p.Y50X)	NM_017882.3 M	SNV	P	2 +	10
205182	CLN6	c.791CCT[1]	p.Ser265Del (p.S265del)	NM_017882.3 M	MS	P	3 +	8
205182	CLN6	c.794_796del	--	NM_017882.3 M	MS	P	3 +	8
4077	CLN6	c.214G>T	p.Glu72Ter (p.E72X)	NM_017882.3 M	SNV	P	2 +	7
4083	CLN6	c.458TCA[1]	p.Ile154Del (p.I154del)	NM_017882.3 M	MS	P	3 +	7
4083	CLN6	c.461_463del	--	NM_017882.3 M	MS	P	3 +	7
30600	CLN6	c.308G>A	p.Arg103Gln (p.R103Q)	NM_017882.3 M	SNV	P	3 +	6
402184	CLN6	c.407G>A	p.Arg136His (p.R136H)	NM_017882.3 M	SNV	P	3 +	6
457972	CLN6	c.445C>T	p.Arg149Cys (p.R149C)	NM_017882.3 M	SNV	LP	1 +	6
498240	CLN6	c.307C>T	p.Arg103Trp (p.R103W)	NM_017882.3 M	SNV	P	2 +	5
813907	CLN6	c.662A>G	p.Tyr221Cys (p.Y221C)	NM_017882.3 M	SNV	VUS	2 +	5
205171	CLN6	c.665+1G>A	--	NM_017882.3 M	SNV	P	1 +	5
205171	CLN6	c.761+1G>A	--	NM_001411068.1	SNV	P	1 +	5
196481	CLN6	c.214G>C	p.Glu72Gln (p.E72Q)	NM_017882.3 M	SNV	LB	2 +	4
205183	CLN6	c.278C>T	p.Thr93Met (p.T93M)	NM_017882.3 M	SNV	LP	1 +	4
4081	CLN6	c.316dup	p.Arg106fs (p.R106fs)	NM_017882.3 M	Dup	P	2 +	4
1066129	CLN6	c.486+1G>C	--	NM_017882.3 M	SNV	LP	1 +	4
555430	CLN6	c.486+1G>A	--	NM_017882.3 M	SNV	LP	3 +	4
560342	CLN6	c.662A>C	p.Tyr221Ser (p.Y221S)	NM_017882.3 M	SNV	P	2 +	4
2415022	CLN6	c.723G>C	p.Met241Ile (p.M241I)	NM_017882.3 M	SNV	P	1 +	4

588 Results, 20 per Page

...

Comparison