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Gene: PARS2 & Disease: DEE75, 11 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
632566	PARS2	c.1091C>G	p.Pro364Arg (p.P364R)	NM_152268.4 M	SNV	P	1 +	8
432121	PARS2	c.283G>A	p.Val95Ile (p.V95I)	NM_152268.4 M	SNV	P	1 +	7
632567	PARS2	c.239T>C	p.Ile80Thr (p.I80T)	NM_152268.4 M	SNV	P	1 +	2
183148	PARS2	c.1130dup	p.Pro377_Lys378insTer	NM_152268.4 M	Dup	P	1 +	2
183149	PARS2	c.836C>T	p.Ser279Leu (p.S279L)	NM_152268.4 M	SNV	P	1 +	2
1698984	PARS2	c.874T>C	p.Cys292Arg (p.C292R)	NM_152268.4 M	SNV	VUS	1 +	1
632568	PARS2	c.607G>A	p.Glu203Lys (p.E203K)	NM_152268.4 M	SNV	P	1 +	1
632570	PARS2	c.604C>G	p.Arg202Gly (p.R202G)	NM_152268.4 M	SNV	P	1 +	1
983148	PARS2	c.340G>A	p.Gly114Ser (p.G114S)	NM_152268.4 M	SNV	VUS	1 +	0
2228634	PARS2	c.294G>A	p.Met98Ile (p.M98I)	NM_152268.4 M	SNV	VUS	1 +	0
982976	PARS2	c.1129C>T	p.Pro377Ser (p.P377S)	NM_152268.4 M	SNV	VUS	1 +	0

11 Results, 20 per Page

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