"PARS2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 381172	NM_152268.4(PARS2):c.1158C>T (p.Ala386=)	PARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1223582	NM_152268.4(PARS2):c.1154C>T (p.Ala385Val)	PARS2 (A385V)	Single nucleotide variant (missense variant)	PARS2-related disorder +1 more	GBenign/Likely benign
Select item 1086760	NM_152268.4(PARS2):c.1075G>T (p.Asp359Tyr)	PARS2 (D359Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 381439	NM_152268.4(PARS2):c.489G>A (p.Thr163=)	PARS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2079193	NM_152268.4(PARS2):c.366C>T (p.Leu122=)	PARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 381204	NM_152268.4(PARS2):c.62T>G (p.Leu21Arg)	PARS2 (L21R)	Single nucleotide variant (missense variant)	PARS2-related disorder +2 more	GBenign

ClinVar