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Mutation Direct

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Gene: EGLN1 & Disease: Primary Polycythemia, 39 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count
296144	EGLN1	c.2416_2419del	--	NM_022051.3 M	Del	LB	1 +
296150	EGLN1	c.*1965A>G	--	NM_022051.3 M	SNV	VUS	1 +
296154	EGLN1	c.1802_1803dup	--	NM_022051.3 M	Dup	VUS	1 +
296158	EGLN1	c.1434_1436del	--	NM_022051.3 M	Del	LB	1 +
296159	EGLN1	c.1428_1429del	--	NM_022051.3 M	Del	VUS	1 +
296160	EGLN1	c.*1410ATTTT[1]	--	NM_022051.3 M	MS	VUS	1 +
296162	EGLN1	c.1236_1237insTG	--	NM_022051.3 M	Ins	LB	1 +
296171	EGLN1	c.*758GTTTT[2]	--	NM_022051.3 M	MS	LB	1 +
296173	EGLN1	c.*648del	--	NM_022051.3 M	Del	B	1 +
296176	EGLN1	c.555_559del	--	NM_022051.3 M	Del	VUS	1 +
296181	EGLN1	c.261_263del	--	NM_022051.3 M	Del	VUS	1 +
296184	EGLN1	c.1217-10dup	--	NM_022051.3 M	Dup	B	1 +
296185	EGLN1	c.1217-10del	--	NM_022051.3 M	Del	B	1 +
296144	EGLN1	c.2477_2480del	--	NM_001377260.1	Del	LB	1 +
296144	EGLN1	c.2522_2525del	--	NM_001377261.1	Del	LB	1 +
296150	EGLN1	c.*2026A>G	--	NM_001377260.1	SNV	VUS	1 +
296150	EGLN1	c.*2071A>G	--	NM_001377261.1	SNV	VUS	1 +
296154	EGLN1	c.1863_1864dup	--	NM_001377260.1	Dup	VUS	1 +
296154	EGLN1	c.1908_1909dup	--	NM_001377261.1	Dup	VUS	1 +
296158	EGLN1	c.1495_1497del	--	NM_001377260.1	Del	LB	1 +

39 Results, 20 per Page

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