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Gene: DEPDC5 & Disease: ENFL, 36 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
180645	DEPDC5	c.2591C>T	p.Thr864Met (p.T864M)	NM_001242896.3 M	SNV	P	2 +	4
	DEPDC5	c.2564C>T	p.Thr855Met (p.T855M)	NM_001136029.4	SNV	P	2 +	4
	DEPDC5	c.2357C>T	p.Thr786Met (p.T786M)	NM_001242897.2	SNV	P	2 +	4
	DEPDC5	c.2591C>T	p.Thr864Met (p.T864M)	NM_001363852.2	SNV	P	2 +	4
	DEPDC5	c.2357C>T	p.Thr786Met (p.T786M)	NM_001363854.2	SNV	P	2 +	4
	DEPDC5	c.2591C>T	p.Thr864Met (p.T864M)	NM_001364318.2	SNV	P	2 +	4
	DEPDC5	c.2357C>T	p.Thr786Met (p.T786M)	NM_001364319.2	SNV	P	2 +	4
	DEPDC5	c.2591C>T	p.Thr864Met (p.T864M)	NM_001364320.2	SNV	P	2 +	4
	DEPDC5	c.2507C>T	p.Thr836Met (p.T836M)	NM_001369901.1	SNV	P	2 +	4
	DEPDC5	c.2507C>T	p.Thr836Met (p.T836M)	NM_001369902.1	SNV	P	2 +	4
	DEPDC5	c.2564C>T	p.Thr855Met (p.T855M)	NM_001369903.1	SNV	P	2 +	4
	DEPDC5	c.2564C>T	p.Thr855Met (p.T855M)	NM_014662.6	SNV	P	2 +	4
1453093	DEPDC5	c.4689_4690del	p.Gly1564_Asp1565insTer	NM_001242896.3 M	Del	P	2 +	2
	DEPDC5	c.4662_4663del	p.Gly1555_Asp1556insTer	NM_001136029.4	Del	P	2 +	2
	DEPDC5	c.4389_4390del	p.Gly1464_Asp1465insTer	NM_001242897.2	Del	P	2 +	2
	DEPDC5	c.4623_4624del	p.Gly1542_Asp1543insTer	NM_001363852.2	Del	P	2 +	2
	DEPDC5	c.4455_4456del	p.Gly1486_Asp1487insTer	NM_001363854.2	Del	P	2 +	2
	DEPDC5	c.4689_4690del	p.Gly1564_Asp1565insTer	NM_001364318.2	Del	P	2 +	2
	DEPDC5	c.4455_4456del	p.Gly1486_Asp1487insTer	NM_001364319.2	Del	P	2 +	2
	DEPDC5	c.4623_4624del	p.Gly1542_Asp1543insTer	NM_001364320.2	Del	P	2 +	2

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