"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CARS2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 475625	NM_024537.4(CARS2):c.1683dup (p.Ser562fs)	CARS2 (S300fs +1 more)	Duplication (frameshift variant +1 more)	Combined oxidative phosphorylation defect type 27 +1 more	GConflicting classifications of pathogenicity
Select item 542305	NM_024537.4(CARS2):c.1331C>T (p.Pro444Leu)	CARS2 (P444L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1495983	NM_024537.4(CARS2):c.1048C>T (p.Arg350Cys)	CARS2 (R88C +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 27 +1 more	GUncertain significance
Select item 475631	NM_024537.4(CARS2):c.563C>T (p.Thr188Met)	CARS2 (T188M)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2683242	NM_024537.4(CARS2):c.465+5A>C	CARS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1212666	NM_024537.4(CARS2):c.125G>C (p.Trp42Ser)	LOC130010127, CARS2 (W42S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar