"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "YARS2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 308455	NM_001040436.3(YARS2):c.930G>A (p.Pro310=)	YARS2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3380099	NM_001040436.3(YARS2):c.895C>G (p.Pro299Ala)	YARS2 (P299A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 308457	NM_001040436.3(YARS2):c.870T>C (p.Val290=)	YARS2	Single nucleotide variant (synonymous variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2 +3 more	GConflicting classifications of pathogenicity
Select item 594785	NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter)	YARS2 (E212*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 308460	NM_001040436.3(YARS2):c.572G>T (p.Gly191Val)	YARS2 (G191V)	Single nucleotide variant (missense variant)	Myopathy, lactic acidosis, and sideroblastic anemia 2 +2 more	GBenign/Likely benign
Select item 137937	NM_001040436.3(YARS2):c.291C>T (p.Gly97=)	YARS2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 559360	NM_001040436.3(YARS2):c.201dup (p.Gly68fs)	YARS2 (G68fs)	Duplication (frameshift variant)	not provided	GPathogenic

ClinVar