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Gene: CTNNB1 & Disease: Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome, 317 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
279956	CTNNB1	c.998dup	p.Tyr333Ter (p.Y333X)	NM_001904.4 M	Dup	P	2 +	8
	CTNNB1	c.998dup	p.Tyr333Ter (p.Y333X)	NM_001098209.2	Dup	P	2 +	8
	CTNNB1	c.998dup	p.Tyr333Ter (p.Y333X)	NM_001098210.2	Dup	P	2 +	8
	CTNNB1	c.977dup	p.Tyr326Ter (p.Y326X)	NM_001330729.2	Dup	P	2 +	8
559636	CTNNB1	c.1420C>T	p.Arg474Ter (p.R474X)	NM_001904.4 M	SNV	P	3 +	7
253000	CTNNB1	c.268C>T	p.Arg90Ter (p.R90X)	NM_001904.4 M	SNV	P	2 +	7
559636	CTNNB1	c.1420C>T	p.Arg474Ter (p.R474X)	NM_001098209.2	SNV	P	3 +	7
	CTNNB1	c.1420C>T	p.Arg474Ter (p.R474X)	NM_001098210.2	SNV	P	3 +	7
	CTNNB1	c.1399C>T	p.Arg467Ter (p.R467X)	NM_001330729.2	SNV	P	3 +	7
253000	CTNNB1	c.268C>T	p.Arg90Ter (p.R90X)	NM_001098209.2	SNV	P	2 +	7
	CTNNB1	c.268C>T	p.Arg90Ter (p.R90X)	NM_001098210.2	SNV	P	2 +	7
	CTNNB1	c.247C>T	p.Arg83Ter (p.R83X)	NM_001330729.2	SNV	P	2 +	7
429824	CTNNB1	c.1981C>T	p.Arg661Ter (p.R661X)	NM_001904.4 M	SNV	P	2 +	6
503703	CTNNB1	c.1925_1926del	p.Glu642fs (p.E642fs)	NM_001904.4 M	MS	P	2 +	6
503703	CTNNB1	c.1925_1926delAG	--	NM_001904.4 M	MS	P	2 +	6
265085	CTNNB1	c.1603C>T	p.Arg535Ter (p.R535X)	NM_001904.4 M	SNV	P	3 +	6
39655	CTNNB1	c.1543C>T	p.Arg515Ter (p.R515X)	NM_001904.4 M	SNV	P	8 +	6
987152	CTNNB1	c.999C>G	p.Tyr333Ter (p.Y333X)	NM_001904.4 M	SNV	P	2 +	6
265443	CTNNB1	c.283C>T	p.Arg95Ter (p.R95X)	NM_001904.4 M	SNV	P	8 +	6
429824	CTNNB1	c.1981C>T	p.Arg661Ter (p.R661X)	NM_001098209.2	SNV	P	2 +	6

317 Results, 20 per Page

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