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Gene: BBS7 & Disease: BBS7, 253 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
866308	BBS7	c.1002del	p.Asn335fs (p.N335fs)	NM_176824.3 M	Del	P	2 +	7
216138	BBS7	c.389_390del	p.Asn130fs (p.N130fs)	NM_176824.3 M	Del	P	2 +	7
866308	BBS7	c.1002del	p.Asn335fs (p.N335fs)	NM_018190.4	Del	P	2 +	7
216138	BBS7	c.389_390del	p.Asn130fs (p.N130fs)	NM_018190.4	Del	P	2 +	7
1507819	BBS7	c.849+1G>C	--	NM_176824.3 M	SNV	P	2 +	6
1507819	BBS7	c.849+1G>C	--	NM_018190.4	SNV	P	2 +	6
375301	BBS7	c.1891-2A>C	--	NM_176824.3 M	SNV	LP	1 +	5
166738	BBS7	c.728G>A	p.Cys243Tyr (p.C243Y)	NM_176824.3 M	SNV	P	2 +	5
3016	BBS7	c.632C>T	p.Thr211Ile (p.T211I)	NM_176824.3 M	SNV	P	2 +	5
281626	BBS7	c.712_715del	p.Arg238fs (p.R238fs)	NM_176824.3 M	MS	P	4 +	5
281626	BBS7	c.712_715delAGAG	--	NM_176824.3 M	MS	P	4 +	5
375301	BBS7	c.1891-2A>C	--	NM_018190.4	SNV	LP	1 +	5
166738	BBS7	c.728G>A	p.Cys243Tyr (p.C243Y)	NM_018190.4	SNV	P	2 +	5
3016	BBS7	c.632C>T	p.Thr211Ile (p.T211I)	NM_018190.4	SNV	P	2 +	5
281626	BBS7	c.712_715del	p.Arg238fs (p.R238fs)	NM_018190.4	MS	P	4 +	5
960839	BBS7	c.838C>T	p.Arg280Ter (p.R280X)	NM_176824.3 M	SNV	P	2 +	4
285609	BBS7	c.1062_1063del	p.Tyr354_Lys355delinsTer	NM_176824.3 M	MS	P	2 +	4
3015	BBS7	c.968A>G	p.His323Arg (p.H323R)	NM_176824.3 M	SNV	P	2 +	4
631936	BBS7	c.1458C>A	p.Tyr486Ter (p.Y486X)	NM_176824.3 M	SNV	P	2 +	4
937093	BBS7	c.1654dup	p.Thr552fs (p.T552fs)	NM_176824.3 M	Dup	P	2 +	4

253 Results, 20 per Page

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