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Gene: AMACR & Disease: AMACRD, 951 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
5523	AMACR	c.154T>C	p.Ser52Pro (p.S52P)	NM_014324.6 M	SNV	P	2 +	8
	AMACR	c.154T>C	p.Ser52Pro (p.S52P)	NM_001167595.2	SNV	P	2 +	8
	AMACR	c.154T>C	p.Ser52Pro (p.S52P)	NM_203382.3	SNV	P	2 +	8
235439	AMACR	c.554T>C	p.Val185Ala (p.V185A)	NM_014324.6 M	SNV	LB	1 +	3
	AMACR	c.554T>C	p.Val185Ala (p.V185A)	NM_001167595.2	SNV	LB	1 +	3
	AMACR	c.393T>C	p.Gly131= (p.G131=)	NM_203382.3	SNV	LB	1 +	3
2097583	AMACR	c.739+3A>C	--	NM_014324.6 M	SNV	VUS	1 +	2
1944229	AMACR	c.552+4A>T	--	NM_014324.6 M	SNV	VUS	1 +	2
2097866	AMACR	c.552+3A>T	--	NM_014324.6 M	SNV	VUS	1 +	2
1436594	AMACR	c.553-3A>G	--	NM_014324.6 M	SNV	VUS	1 +	2
1400261	AMACR	c.391+3A>G	--	NM_014324.6 M	SNV	VUS	1 +	2
1896152	AMACR	c.740-3C>T	--	NM_014324.6 M	SNV	VUS	1 +	2
2160576	AMACR	c.391+4T>A	--	NM_014324.6 M	SNV	VUS	1 +	2
2097583	AMACR	c.578+3A>C	--	NM_203382.3	SNV	VUS	1 +	2
2097583	AMACR	c.739+3A>C	--	NM_001167595.2	SNV	VUS	1 +	2
1944229	AMACR	c.391+1186A>T	--	NM_203382.3	SNV	VUS	1 +	2
1944229	AMACR	c.552+4A>T	--	NM_001167595.2	SNV	VUS	1 +	2
2097866	AMACR	c.552+3A>T	--	NM_001167595.2	SNV	VUS	1 +	2
2097866	AMACR	c.391+1185A>T	--	NM_203382.3	SNV	VUS	1 +	2
1436594	AMACR	c.392-3A>G	--	NM_203382.3	SNV	VUS	1 +	2

951 Results, 20 per Page

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