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Gene: IFT27 & Disease: BBS19, 18 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
140462	IFT27	c.299G>A	p.Cys100Tyr (p.C100Y)	NM_001177701.3 M	SNV	P	1 +	4
	IFT27	c.299G>A	p.Cys100Tyr (p.C100Y)	NM_001363003.2	SNV	P	1 +	4
	IFT27	c.296G>A	p.Cys99Tyr (p.C99Y)	NM_006860.5	SNV	P	1 +	4
585274	IFT27	c.352+1G>T	--	NM_001177701.3 M	SNV	P	2 +	2
	IFT27	c.352+1G>T	--	NM_001363003.2	SNV	P	2 +	2
	IFT27	c.349+1G>T	--	NM_006860.5	SNV	P	2 +	2
585273	IFT27	c.107A>G	p.Tyr36Cys (p.Y36C)	NM_001177701.3 M	SNV	P	2 +	1
1285253	IFT27	c.174+21G>A	--	NM_001177701.3 M	SNV	B	1 +	1
585273	IFT27	c.107A>G	p.Tyr36Cys (p.Y36C)	NM_001363003.2	SNV	P	2 +	1
585273	IFT27	c.104A>G	p.Tyr35Cys (p.Y35C)	NM_006860.5	SNV	P	2 +	1
1285253	IFT27	c.174+21G>A	--	NM_001363003.2	SNV	B	1 +	1
1285253	IFT27	c.171+21G>A	--	NM_006860.5	SNV	B	1 +	1
1319939	IFT27	c.197C>A	p.Ala66Asp (p.A66D)	NM_001177701.3 M	SNV	LP	1 +	0
992407	IFT27	c.116C>G	p.Thr39Arg (p.T39R)	NM_001177701.3 M	SNV	VUS	1 +	0
1319939	IFT27	c.197C>A	p.Ala66Asp (p.A66D)	NM_001363003.2	SNV	LP	1 +	0
1319939	IFT27	c.194C>A	p.Ala65Asp (p.A65D)	NM_006860.5	SNV	LP	1 +	0
992407	IFT27	c.116C>G	p.Thr39Arg (p.T39R)	NM_001363003.2	SNV	VUS	1 +	0
992407	IFT27	c.113C>G	p.Thr38Arg (p.T38R)	NM_006860.5	SNV	VUS	1 +	0

18 Results, 20 per Page

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