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Gene: BBS2 & Disease: Fundus Dystrophy, 20 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
4578	BBS2	c.1895G>C	p.Arg632Pro (p.R632P)	NM_031885.5 M	SNV	P	6 +	21
4578	BBS2	c.1895G>C	p.Arg632Pro (p.R632P)	NM_001377456.1	SNV	P	6 +	21
4570	BBS2	c.72C>G	p.Tyr24Ter (p.Y24X)	NM_031885.5 M	SNV	P	6 +	8
4572	BBS2	c.823C>T	p.Arg275Ter (p.R275X)	NM_031885.5 M	SNV	P	4 +	8
4583	BBS2	c.646C>T	p.Arg216Ter (p.R216X)	NM_031885.5 M	SNV	P	3 +	8
553927	BBS2	c.534+1G>T	--	NM_031885.5 M	SNV	P	4 +	8
552850	BBS2	c.1909_1910del	p.Met637fs (p.M637fs)	NM_031885.5 M	Del	P	3 +	8
4570	BBS2	c.72C>G	p.Tyr24Ter (p.Y24X)	NM_001377456.1	SNV	P	6 +	8
4572	BBS2	c.823C>T	p.Arg275Ter (p.R275X)	NM_001377456.1	SNV	P	4 +	8
4583	BBS2	c.646C>T	p.Arg216Ter (p.R216X)	NM_001377456.1	SNV	P	3 +	8
553927	BBS2	c.534+1G>T	--	NM_001377456.1	SNV	P	4 +	8
552850	BBS2	c.1909_1910del	p.Met637fs (p.M637fs)	NM_001377456.1	Del	P	3 +	8
557198	BBS2	c.241G>T	p.Gly81Cys (p.G81C)	NM_031885.5 M	SNV	P	3 +	2
209043	BBS2	c.401C>G	p.Pro134Arg (p.P134R)	NM_031885.5 M	SNV	P	6 +	2
557198	BBS2	c.241G>T	p.Gly81Cys (p.G81C)	NM_001377456.1	SNV	P	3 +	2
209043	BBS2	c.401C>G	p.Pro134Arg (p.P134R)	NM_001377456.1	SNV	P	6 +	2
555474	BBS2	c.2060-1G>T	--	NM_031885.5 M	SNV	LP	2 +	1
285263	BBS2	c.118G>T	p.Val40Phe (p.V40F)	NM_031885.5 M	SNV	LP	4 +	1
555474	BBS2	c.2060-1G>T	--	NM_001377456.1	SNV	LP	2 +	1
285263	BBS2	c.118G>T	p.Val40Phe (p.V40F)	NM_001377456.1	SNV	LP	4 +	1

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