"Revvity Omics, Revvity"[submitter] AND "AARS2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438705	NM_020745.4(AARS2):c.2444C>T (p.Ala815Val)	AARS2, POLR1C (A815V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 30940	NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)	AARS2, POLR1C (R592W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2143580	NM_020745.4(AARS2):c.1438C>T (p.Arg480Trp)	AARS2, POLR1C (R480W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2690790	NM_020745.4(AARS2):c.1261C>T (p.Arg421Trp)	AARS2, POLR1C (R421W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438706	NM_020745.4(AARS2):c.739C>A (p.Gln247Lys)	AARS2, POLR1C (Q247K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 213963	NM_020745.4(AARS2):c.595C>T (p.Arg199Cys)	AARS2, POLR1C (R199C)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +4 more	GPathogenic/Likely pathogenic
Select item 1361507	NM_020745.4(AARS2):c.368G>T (p.Arg123Leu)	AARS2, POLR1C (R123L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

ClinVar