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Mutation Direct

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Gene: ABCC9 & Disease: IDMYS, 192 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
45395	ABCC9	c.1987C>T	p.Arg663Cys (p.R663C)	NM_020297.4 M	SNV	VUS	6 +	5
	ABCC9	c.1987C>T	p.Arg663Cys (p.R663C)	NM_001377273.1	SNV	VUS	6 +	5
	ABCC9	c.1123C>T	p.Arg375Cys (p.R375C)	NM_001377274.1	SNV	VUS	6 +	5
	ABCC9	c.1987C>T	p.Arg663Cys (p.R663C)	NM_005691.4	SNV	VUS	6 +	5
264611	ABCC9	c.1320+1G>A	--	NM_020297.4 M	SNV	P	2 +	4
	ABCC9	c.456+1G>A	--	NM_001377274.1	SNV	P	2 +	4
	ABCC9	c.1320+1G>A	--	NM_005691.4	SNV	P	2 +	4
	ABCC9	c.1320+1G>A	--	NM_001377273.1	SNV	P	2 +	4
582030	ABCC9	c.4205C>G	p.Ser1402Cys (p.S1402C)	NM_020297.4 M	SNV	VUS	4 +	3
45389	ABCC9	c.1603T>C	p.Tyr535His (p.Y535H)	NM_020297.4 M	SNV	LB	4 +	3
45391	ABCC9	c.1848C>T	p.Asp616= (p.D616=)	NM_020297.4 M	SNV	LB	4 +	3
179082	ABCC9	c.575G>A	p.Arg192Lys (p.R192K)	NM_020297.4 M	SNV	VUS	4 +	3
45404	ABCC9	c.2339+13A>G	--	NM_020297.4 M	SNV	LB	4 +	3
179833	ABCC9	c.395A>G	p.Lys132Arg (p.K132R)	NM_020297.4 M	SNV	VUS	4 +	3
179983	ABCC9	c.4196dup	p.Ser1400fs (p.S1400fs)	NM_020297.4 M	Dup	VUS	4 +	3
582030	ABCC9	c.4205C>G	p.Ser1402Cys (p.S1402C)	NM_001377273.1	SNV	VUS	4 +	3
	ABCC9	c.3338C>G	p.Ser1113Cys (p.S1113C)	NM_001377274.1	SNV	VUS	4 +	3
	ABCC9	c.4205C>G	p.Ser1402Cys (p.S1402C)	NM_005691.4	SNV	VUS	4 +	3
45389	ABCC9	c.1603T>C	p.Tyr535His (p.Y535H)	NM_001377273.1	SNV	LB	4 +	3
45389	ABCC9	c.739T>C	p.Tyr247His (p.Y247H)	NM_001377274.1	SNV	LB	4 +	3

192 Results, 20 per Page

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