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Gene: SPTBN2 & Disease: SCAR14, 67 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
448526	SPTBN2	c.92C>T	p.Ser31Leu (p.S31L)	NM_006946.4 M	SNV	LB	2 +	3
195271	SPTBN2	c.157+5G>A	--	NM_006946.4 M	SNV	LB	2 +	3
1029116	SPTBN2	c.6802G>A	p.Val2268Met (p.V2268M)	NM_006946.4 M	SNV	LB	1 +	3
305532	SPTBN2	c.6669G>A	p.Gly2223= (p.G2223=)	NM_006946.4 M	SNV	LB	3 +	3
619974	SPTBN2	c.7109G>A	p.Arg2370His (p.R2370H)	NM_006946.4 M	SNV	LP	2 +	3
1256191	SPTBN2	c.7039C>T	p.Arg2347Trp (p.R2347W)	NM_006946.4 M	SNV	LB	2 +	3
448497	SPTBN2	c.3722A>G	p.Glu1241Gly (p.E1241G)	NM_006946.4 M	SNV	LB	2 +	3
1034341	SPTBN2	c.4496A>T	p.Asp1499Val (p.D1499V)	NM_006946.4 M	SNV	LP	1 +	2
1329497	SPTBN2	c.1895C>T	p.Ala632Val (p.A632V)	NM_006946.4 M	SNV	VUS	1 +	2
305538	SPTBN2	c.6242G>A	p.Arg2081Gln (p.R2081Q)	NM_006946.4 M	SNV	LB	3 +	2
305540	SPTBN2	c.5950-8G>A	--	NM_006946.4 M	SNV	LB	2 +	2
305587	SPTBN2	c.1351-7G>T	--	NM_006946.4 M	SNV	LB	2 +	2
305588	SPTBN2	c.1351-7G>A	--	NM_006946.4 M	SNV	LB	2 +	2
502387	SPTBN2	c.3800C>T	p.Ala1267Val (p.A1267V)	NM_006946.4 M	SNV	LB	2 +	2
1372969	SPTBN2	c.692G>A	p.Cys231Tyr (p.C231Y)	NM_006946.4 M	SNV	VUS	2 +	2
285565	SPTBN2	c.2473A>G	p.Ser825Gly (p.S825G)	NM_006946.4 M	SNV	B	2 +	2
994477	SPTBN2	c.6591C>T	p.Ser2197= (p.S2197=)	NM_006946.4 M	SNV	VUS	2 +	2
305557	SPTBN2	c.4279-8G>A	--	NM_006946.4 M	SNV	LB	2 +	2
2192735	SPTBN2	c.1154C>T	p.Thr385Met (p.T385M)	NM_006946.4 M	SNV	VUS	1 +	2
1400209	SPTBN2	c.2216G>A	p.Arg739His (p.R739H)	NM_006946.4 M	SNV	VUS	2 +	2

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