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Gene: ABCA2 & Disease: IDPOGSA, 101 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
716154	ABCA2	c.4003+7G>A	--	NM_001606.5 M	SNV	LB	1 +	2
716154	ABCA2	c.4093+7G>A	--	NM_212533.3	SNV	LB	1 +	2
2438711	ABCA2	c.794G>A	p.Arg265Gln (p.R265Q)	NM_001606.5 M	SNV	VUS	1 +	1
2438712	ABCA2	c.2710G>A	p.Ala904Thr (p.A904T)	NM_001606.5 M	SNV	VUS	1 +	1
2438713	ABCA2	c.459C>G	p.Asp153Glu (p.D153E)	NM_001606.5 M	SNV	VUS	1 +	1
2438715	ABCA2	c.1753G>A	p.Asp585Asn (p.D585N)	NM_001606.5 M	SNV	VUS	1 +	1
2438717	ABCA2	c.4085_4102del	p.Arg1362_Thr1367del	NM_001606.5 M	Del	VUS	1 +	1
2438718	ABCA2	c.281C>T	p.Thr94Met (p.T94M)	NM_001606.5 M	SNV	VUS	1 +	1
2438720	ABCA2	c.1099G>A	p.Ala367Thr (p.A367T)	NM_001606.5 M	SNV	VUS	1 +	1
2438721	ABCA2	c.4196C>A	p.Pro1399His (p.P1399H)	NM_001606.5 M	SNV	VUS	1 +	1
1185354	ABCA2	c.7275+82C>G	--	NM_001606.5 M	SNV	B	1 +	1
1185355	ABCA2	c.7275+71G>C	--	NM_001606.5 M	SNV	B	1 +	1
1185357	ABCA2	c.4550+71A>G	--	NM_001606.5 M	SNV	B	1 +	1
1185358	ABCA2	c.4448-124T>C	--	NM_001606.5 M	SNV	B	1 +	1
1185359	ABCA2	c.4447+19A>G	--	NM_001606.5 M	SNV	B	1 +	1
1185360	ABCA2	c.3105-22A>G	--	NM_001606.5 M	SNV	B	1 +	1
1185361	ABCA2	c.2212-34C>T	--	NM_001606.5 M	SNV	B	1 +	1
1185362	ABCA2	c.2037T>C	p.Asp679= (p.D679=)	NM_001606.5 M	SNV	B	1 +	1
1683577	ABCA2	c.4990C>T	p.Arg1664Trp (p.R1664W)	NM_001606.5 M	SNV	VUS	1 +	1
1683578	ABCA2	c.5017G>A	p.Asp1673Asn (p.D1673N)	NM_001606.5 M	SNV	VUS	1 +	1

共101个结果, 每页展示20条

Comparison