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Gene: CSTB & Disease: PME, 30 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
8396	CSTB	c.202C>T	p.Arg68Ter (p.R68X)	NM_000100.4 M	SNV	P	6 +	15
55960	CSTB	c.218_219del	p.Leu73fs (p.L73fs)	NM_000100.4 M	MS	P	4 +	13
8395	CSTB	c.67-1G>C	--	NM_000100.4 M	SNV	P	6 +	8
161418	CSTB	c.136C>T	p.Gln46Ter (p.Q46X)	NM_000100.4 M	SNV	P	4 +	7
8397	CSTB	c.10G>C	p.Gly4Arg (p.G4R)	NM_000100.4 M	SNV	P	2 +	3
8400	CSTB	c.212A>C	p.Gln71Pro (p.Q71P)	NM_000100.4 M	SNV	P	2 +	3
128858	CSTB	c.15G>T	p.Ala5= (p.A5=)	NM_000100.4 M	SNV	LB	4 +	3
195015	CSTB	c.121G>A	p.Val41Met (p.V41M)	NM_000100.4 M	SNV	LB	4 +	3
55958	CSTB	c.168G>A	p.Lys56= (p.K56=)	NM_000100.4 M	SNV	VUS	2 +	2
55959	CSTB	c.169-2A>G	--	NM_000100.4 M	SNV	VUS	2 +	2
55961	CSTB	c.66G>A	p.Gln22= (p.Q22=)	NM_000100.4 M	SNV	VUS	2 +	2
137037	CSTB	c.67-3T>C	--	NM_000100.4 M	SNV	LB	4 +	2
566232	CSTB	c.158A>G	p.Tyr53Cys (p.Y53C)	NM_000100.4 M	SNV	VUS	4 +	2
205323	CSTB	c.193G>A	p.Val65Ile (p.V65I)	NM_000100.4 M	SNV	LB	4 +	1
431700	CSTB	c.10G>T	p.Gly4Trp (p.G4W)	NM_000100.4 M	SNV	LP	2 +	1
161419	CSTB	c.149G>A	p.Gly50Glu (p.G50E)	NM_000100.4 M	SNV	VUS	2 +	1
161420	CSTB	c.168+2_168+19del	--	NM_000100.4 M	Del	VUS	2 +	1
161421	CSTB	c.168+2_168+21delinsAA	--	NM_000100.4 M	Indel	VUS	2 +	1
55957	CSTB	c.125C>A	p.Ser42Ter (p.S42X)	NM_000100.4 M	SNV	VUS	2 +	1
575156	CSTB	c.64C>T	p.Gln22Ter (p.Q22X)	NM_000100.4 M	SNV	P	4 +	1

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