C5193099[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 632566	NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)	PARS2 (P364R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75 +3 more	GConflicting classifications of pathogenicity
Select item 183149	NM_152268.4(PARS2):c.836C>T (p.Ser279Leu)	PARS2 (S279L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75 +1 more	GConflicting classifications of pathogenicity
Select item 632568	NM_152268.4(PARS2):c.607G>A (p.Glu203Lys)	PARS2 (E203K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75	GUncertain significance
Select item 632570	NM_152268.4(PARS2):c.604C>G (p.Arg202Gly)	PARS2 (R202G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75	GUncertain significance
Select item 432121	NM_152268.4(PARS2):c.283G>A (p.Val95Ile)	PARS2 (V95I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75 +1 more	GConflicting classifications of pathogenicity
Select item 632567	NM_152268.4(PARS2):c.239T>C (p.Ile80Thr)	PARS2 (I80T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75	GUncertain significance

ClinVar