"Eurofins Ntd Llc (ga)"[submitter] AND "AARS2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 497299	NM_020745.4(AARS2):c.2728_2755del (p.Thr910fs)	AARS2 (T910fs)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 281937	NM_020745.4(AARS2):c.2165G>A (p.Arg722Gln)	AARS2, POLR1C (R722Q)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +1 more	GUncertain significance
Select item 281938	NM_020745.4(AARS2):c.1519G>C (p.Val507Leu)	AARS2, POLR1C (V507L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 357080	NM_020745.4(AARS2):c.761G>C (p.Gly254Ala)	AARS2 (G254A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 143044	NM_020745.4(AARS2):c.647dup (p.Cys218fs)	AARS2 (C218fs)	Duplication (frameshift variant)	Combined oxidative phosphorylation defect type 8 +2 more	GPathogenic
Select item 213963	NM_020745.4(AARS2):c.595C>T (p.Arg199Cys)	AARS2 (R199C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic

ClinVar