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Gene: CLN8 & Disease: CLN8NE, 23 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2804	CLN8	c.610C>T	p.Arg204Cys (p.R204C)	NM_018941.4 M	SNV	P	3 +	9
56710	CLN8	c.473A>G	p.Tyr158Cys (p.Y158C)	NM_018941.4 M	SNV	P	3 +	6
205207	CLN8	c.374A>G	p.Asn125Ser (p.N125S)	NM_018941.4 M	SNV	LP	3 +	5
2802	CLN8	c.70C>G	p.Arg24Gly (p.R24G)	NM_018941.4 M	SNV	P	3 +	5
196493	CLN8	c.806A>T	p.Glu269Val (p.E269V)	NM_018941.4 M	SNV	LP	3 +	4
205196	CLN8	c.779C>T	p.Pro260Leu (p.P260L)	NM_018941.4 M	SNV	LP	3 +	2
56709	CLN8	c.46C>A	p.Leu16Met (p.L16M)	NM_018941.4 M	SNV	VUS	3 +	2
205203	CLN8	c.59C>G	p.Ser20Cys (p.S20C)	NM_018941.4 M	SNV	VUS	3 +	1
195345	CLN8	c.200C>T	p.Ala67Val (p.A67V)	NM_018941.4 M	SNV	P	4 +	1
698746	CLN8	c.288G>A	p.Ala96= (p.A96=)	NM_018941.4 M	SNV	LB	3 +	0
205191	CLN8	c.556G>A	p.Glu186Lys (p.E186K)	NM_018941.4 M	SNV	VUS	3 +	0
205200	CLN8	c.17A>G	p.Asp6Gly (p.D6G)	NM_018941.4 M	SNV	VUS	3 +	0
205202	CLN8	c.53A>T	p.Tyr18Phe (p.Y18F)	NM_018941.4 M	SNV	VUS	3 +	0
1354506	CLN8	c.374A>T	p.Asn125Ile (p.N125I)	NM_018941.4 M	SNV	VUS	3 +	0
626088	CLN8	c.98T>C	p.Val33Ala (p.V33A)	NM_018941.4 M	SNV	VUS	2 +	0
1185277	CLN8	c.544-227A>G	--	NM_018941.4 M	SNV	B	2 +	0
136803	CLN8	c.777T>C	p.Asn259= (p.N259=)	NM_018941.4 M	SNV	LB	3 +	0
136805	CLN8	c.-123-4T>C	--	NM_018941.4 M	SNV	LB	2 +	0
700161	CLN8	c.300G>A	p.Gln100= (p.Q100=)	NM_018941.4 M	SNV	LB	3 +	0
679917	CLN8	c.544-124T>C	--	NM_018941.4 M	SNV	B	2 +	0

23 Results, 20 per Page

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