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Gene: DNA2 & Disease: PEOA6, 20 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
382984	DNA2	c.295T>C	p.Leu99= (p.L99=)	NM_001080449.3 M	SNV	LB	2 +	2
559218	DNA2	c.720-4del	--	NM_001080449.3 M	Del	LB	2 +	2
516414	DNA2	c.1057+19del	--	NM_001080449.3 M	Del	B	2 +	2
41479	DNA2	c.1909G>A	p.Val637Ile (p.V637I)	NM_001080449.3 M	SNV	P	1 +	2
381847	DNA2	c.888G>A	p.Pro296= (p.P296=)	NM_001080449.3 M	SNV	LB	2 +	2
429200	DNA2	c.2697+13del	--	NM_001080449.3 M	Del	B	2 +	2
257343	DNA2	c.2430C>G	p.Phe810Leu (p.F810L)	NM_001080449.3 M	SNV	LB	2 +	2
257346	DNA2	c.507C>A	p.Ala169= (p.A169=)	NM_001080449.3 M	SNV	B	2 +	2
385006	DNA2	c.1649A>G	p.Asn550Ser (p.N550S)	NM_001080449.3 M	SNV	LB	2 +	2
1333505	DNA2	c.411G>C	p.Met137Ile (p.M137I)	NM_001080449.3 M	SNV	VUS	1 +	1
807407	DNA2	c.1919C>T	p.Ser640Leu (p.S640L)	NM_001080449.3 M	SNV	LP	1 +	1
41477	DNA2	c.593G>A	p.Arg198His (p.R198H)	NM_001080449.3 M	SNV	P	1 +	1
41478	DNA2	c.679A>G	p.Lys227Glu (p.K227E)	NM_001080449.3 M	SNV	P	1 +	1
1333768	DNA2	c.1450del	p.Arg484fs (p.R484fs)	NM_001080449.3 M	Del	VUS	1 +	1
1333770	DNA2	c.2546G>T	p.Gly849Val (p.G849V)	NM_001080449.3 M	SNV	VUS	1 +	1
522960	DNA2	c.3014C>T	p.Thr1005Ile (p.T1005I)	NM_001080449.3 M	SNV	LP	1 +	1
1698835	DNA2	c.1213T>C	p.Tyr405His (p.Y405H)	NM_001080449.3 M	SNV	VUS	1 +	1
1709661	DNA2	c.876C>A	p.Tyr292Ter (p.Y292X)	NM_001080449.3 M	SNV	VUS	1 +	1
1030090	DNA2	c.2219C>G	p.Ala740Gly (p.A740G)	NM_001080449.3 M	SNV	VUS	1 +	1
265529	DNA2	c.1644_1647del	p.Asp548fs (p.D548fs)	NM_001080449.3 M	Del	P	1 +	0

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