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Gene: SDCCAG8 & Disease: BBS16, 2778 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
57	SDCCAG8	c.1420del	p.Glu474fs (p.E474fs)	NM_006642.5 M	Del	P	3 +	4
846611	SDCCAG8	c.696T>G	p.Tyr232Ter (p.Y232X)	NM_006642.5 M	SNV	P	3 +	4
57	SDCCAG8	c.517del	p.Glu173fs (p.E173fs)	NM_001350246.2	Del	P	3 +	4
	SDCCAG8	c.517del	p.Glu173fs (p.E173fs)	NM_001350247.2	Del	P	3 +	4
	SDCCAG8	c.1516del	p.Glu506fs (p.E506fs)	NM_001350248.2	Del	P	3 +	4
	SDCCAG8	c.1126del	p.Glu376fs (p.E376fs)	NM_001350249.2	Del	P	3 +	4
	SDCCAG8	c.517del	p.Glu173fs (p.E173fs)	NM_001350251.2	Del	P	3 +	4
846611	SDCCAG8	c.-417T>G	--	NM_001350246.2	SNV	P	3 +	4
	SDCCAG8	c.-305T>G	--	NM_001350247.2	SNV	P	3 +	4
	SDCCAG8	c.792T>G	p.Tyr264Ter (p.Y264X)	NM_001350248.2	SNV	P	3 +	4
	SDCCAG8	c.402T>G	p.Tyr134Ter (p.Y134X)	NM_001350249.2	SNV	P	3 +	4
	SDCCAG8	c.-582T>G	--	NM_001350251.2	SNV	P	3 +	4
60	SDCCAG8	c.740+356C>T	--	NM_006642.5 M	SNV	P	3 +	3
649302	SDCCAG8	c.307-1G>A	--	NM_006642.5 M	SNV	LP	2 +	3
1321378	SDCCAG8	c.1356+1G>C	--	NM_006642.5 M	SNV	LP	3 +	3
1978801	SDCCAG8	c.420+1G>C	--	NM_006642.5 M	SNV	LP	2 +	3
654015	SDCCAG8	c.696del	p.Thr231_Tyr232insTer	NM_006642.5 M	Del	P	2 +	3
1477324	SDCCAG8	c.1985+1G>T	--	NM_006642.5 M	SNV	LP	2 +	3
2009850	SDCCAG8	c.849T>A	p.Cys283Ter (p.C283X)	NM_006642.5 M	SNV	P	2 +	3
631600	SDCCAG8	c.220+2T>C	--	NM_006642.5 M	SNV	LP	2 +	3

2778 Results, 20 per Page

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