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Mutation Direct

Effortless mutation search and display tool

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Gene: PRDM8 & Disease: EPM10, 768 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1170071	PRDM8	c.1980G>C	p.Arg660= (p.R660=)	NM_001099403.2 M	SNV	B	2 +	2
1170071	PRDM8	c.1980G>C	p.Arg660= (p.R660=)	NM_020226.4	SNV	B	2 +	2
1085496	PRDM8	c.921G>C	p.Thr307= (p.T307=)	NM_001099403.2 M	SNV	LB	2 +	1
1056844	PRDM8	c.1138G>A	p.Glu380Lys (p.E380K)	NM_001099403.2 M	SNV	VUS	2 +	1
2158751	PRDM8	c.929G>T	p.Gly310Val (p.G310V)	NM_001099403.2 M	SNV	VUS	2 +	1
1433778	PRDM8	c.1795G>A	p.Gly599Arg (p.G599R)	NM_001099403.2 M	SNV	VUS	2 +	1
860408	PRDM8	c.1693G>A	p.Gly565Ser (p.G565S)	NM_001099403.2 M	SNV	VUS	2 +	1
475670	PRDM8	c.1466G>A	p.Gly489Asp (p.G489D)	NM_001099403.2 M	SNV	VUS	2 +	1
217865	PRDM8	c.781T>C	p.Phe261Leu (p.F261L)	NM_001099403.2 M	SNV	P	2 +	1
570269	PRDM8	c.1468C>G	p.Gln490Glu (p.Q490E)	NM_001099403.2 M	SNV	VUS	2 +	1
1152369	PRDM8	c.415T>C	p.Leu139= (p.L139=)	NM_001099403.2 M	SNV	LB	2 +	1
572832	PRDM8	c.1650G>C	p.Gln550His (p.Q550H)	NM_001099403.2 M	SNV	VUS	2 +	1
1627894	PRDM8	c.1659G>A	p.Ala553= (p.A553=)	NM_001099403.2 M	SNV	LB	2 +	1
1394483	PRDM8	c.1634T>C	p.Leu545Pro (p.L545P)	NM_001099403.2 M	SNV	VUS	2 +	1
1085496	PRDM8	c.921G>C	p.Thr307= (p.T307=)	NM_020226.4	SNV	LB	2 +	1
1056844	PRDM8	c.1138G>A	p.Glu380Lys (p.E380K)	NM_020226.4	SNV	VUS	2 +	1
2158751	PRDM8	c.929G>T	p.Gly310Val (p.G310V)	NM_020226.4	SNV	VUS	2 +	1
1433778	PRDM8	c.1795G>A	p.Gly599Arg (p.G599R)	NM_020226.4	SNV	VUS	2 +	1
860408	PRDM8	c.1693G>A	p.Gly565Ser (p.G565S)	NM_020226.4	SNV	VUS	2 +	1
475670	PRDM8	c.1466G>A	p.Gly489Asp (p.G489D)	NM_020226.4	SNV	VUS	2 +	1

768 Results, 20 per Page

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