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Gene: BICD2 & Disease: Spinal Muscular Atrophy with Lower Extremity Predominant, 1166 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
55857	BICD2	c.320C>T	p.Ser107Leu (p.S107L)	NM_001003800.2 M	SNV	P	4 +	8
55857	BICD2	c.320C>T	p.Ser107Leu (p.S107L)	NM_015250.4	SNV	P	4 +	8
55858	BICD2	c.2108C>T	p.Thr703Met (p.T703M)	NM_001003800.2 M	SNV	P	2 +	6
55858	BICD2	c.2108C>T	p.Thr703Met (p.T703M)	NM_015250.4	SNV	P	2 +	6
210526	BICD2	c.2080C>T	p.Arg694Cys (p.R694C)	NM_001003800.2 M	SNV	P	4 +	3
235235	BICD2	c.269A>G	p.Lys90Arg (p.K90R)	NM_001003800.2 M	SNV	LB	4 +	3
210526	BICD2	c.2080C>T	p.Arg694Cys (p.R694C)	NM_015250.4	SNV	P	4 +	3
235235	BICD2	c.269A>G	p.Lys90Arg (p.K90R)	NM_015250.4	SNV	LB	4 +	3
954395	BICD2	c.2042C>T	p.Ser681Leu (p.S681L)	NM_001003800.2 M	SNV	LP	2 +	2
843833	BICD2	c.1715G>A	p.Arg572His (p.R572H)	NM_001003800.2 M	SNV	LB	2 +	2
637067	BICD2	c.2239C>T	p.Arg747Cys (p.R747C)	NM_001003800.2 M	SNV	P	4 +	2
647320	BICD2	c.1667A>C	p.Tyr556Ser (p.Y556S)	NM_001003800.2 M	SNV	LP	2 +	2
639270	BICD2	c.1063A>T	p.Met355Leu (p.M355L)	NM_001003800.2 M	SNV	VUS	2 +	2
1167684	BICD2	c.1401C>T	p.His467= (p.H467=)	NM_001003800.2 M	SNV	LB	3 +	2
952658	BICD2	c.1805C>T	p.Thr602Met (p.T602M)	NM_001003800.2 M	SNV	LB	2 +	2
680342	BICD2	c.2258+6C>T	--	NM_001003800.2 M	SNV	LB	2 +	2
446893	BICD2	c.1704_1721dup	p.Gly570_Pro575dup	NM_001003800.2 M	Dup	VUS	2 +	2
453157	BICD2	c.638A>G	p.Lys213Arg (p.K213R)	NM_001003800.2 M	SNV	VUS	2 +	2
55859	BICD2	c.563A>C	p.Asn188Thr (p.N188T)	NM_001003800.2 M	SNV	P	2 +	2
55861	BICD2	c.1523A>C	p.Lys508Thr (p.K508T)	NM_001003800.2 M	SNV	P	4 +	2

1166 Results, 20 per Page

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